nsv6624930

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:25
Validation:Not tested
Clinical Assertions: No
Region Size:82,334

Publication(s):Zarrei et al. 2023

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1515 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):42,758,201-42,840,534

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624930	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nsv6624930	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	43,262,353	43,344,686

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18282676	duplication	OSC2129	SNP array	Probe signal intensity	7
nssv18282835	duplication	OSC2252	SNP array	Probe signal intensity	nssv18282836, nssv18282837, nssv18282838
nssv18284124	duplication	OSC2497	SNP array	Probe signal intensity	6
nssv18285776	duplication	OSC2857	SNP array	Probe signal intensity	7
nssv18285929	duplication	OSC2969	SNP array	Probe signal intensity	8
nssv18286273	duplication	OSC2708	SNP array	Probe signal intensity	5
nssv18286500	duplication	OSC2873	SNP array	Probe signal intensity	9
nssv18289416	duplication	OSC3437	SNP array	Probe signal intensity	nssv18289415, nssv18289417, nssv18289418
nssv18290300	duplication	OSC3585	SNP array	Probe signal intensity	8
nssv18292079	duplication	OSC4027	SNP array	Probe signal intensity	6
nssv18292850	duplication	OSC4082	SNP array	Probe signal intensity	9
nssv18294105	duplication	OSC4315	SNP array	Probe signal intensity	8
nssv18294980	duplication	OSC4295	SNP array	Probe signal intensity	9
nssv18295320	duplication	OSC0464	SNP array	Probe signal intensity	7
nssv18295968	duplication	OSC4603	SNP array	Probe signal intensity	7
nssv18296143	duplication	OSC4480	SNP array	Probe signal intensity	10
nssv18296513	duplication	OSC4728	SNP array	Probe signal intensity	9
nssv18297073	duplication	OSC4732	SNP array	Probe signal intensity	5
nssv18317206	duplication	OSC0871	SNP array	Probe signal intensity	nssv18316716, nssv18316969, nssv18317210
nssv18320554	duplication	OSC0960	SNP array	Probe signal intensity	8
nssv18320835	duplication	OSC0965	SNP array	Probe signal intensity	7
nssv18325345	duplication	OSC1938	SNP array	Probe signal intensity	7
nssv18325718	duplication	OSC1812	SNP array	Probe signal intensity	13
nssv18325885	duplication	OSC1934	SNP array	Probe signal intensity	8
nssv18326211	duplication	OSC1995	SNP array	Probe signal intensity	5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18282676	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18282835	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18284124	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18285776	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18285929	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18286273	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18286500	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18289416	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18290300	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18292079	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18292850	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18294105	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18294980	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18295320	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18295968	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18296143	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18296513	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18297073	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18317206	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18320554	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18320835	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18325345	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18325718	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18325885	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18326211	Remapped	Perfect	NC_000019.10:g.(?_ 42758201)_(4284053 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	42,758,201	42,840,534
nssv18282676	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18282835	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18284124	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18285776	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18285929	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18286273	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18286500	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18289416	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18290300	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18292079	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18292850	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18294105	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18294980	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18295320	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18295968	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18296143	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18296513	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18297073	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18317206	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18320554	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18320835	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18325345	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18325718	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18325885	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686
nssv18326211	Submitted genomic		NC_000019.9:g.(?_4 3262353)_(43344686 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,262,353	43,344,686

dbVar

Database of genomic structural variation

nsv6624930

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant