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dbVar

Database of genomic structural variation

nsv6624476

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:31,574

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: 1004 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):40,843,734-40,875,307

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6624476	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nsv6624476	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,349,639	41,381,212

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18302616	deletion	OSC5857	SNP array	Probe signal intensity	7
nssv18316058	deletion	OSC8220	SNP array	Probe signal intensity	9
nssv18318383	deletion	OSC8506	SNP array	Probe signal intensity	12
nssv18318421	deletion	OSC8519	SNP array	Probe signal intensity	13
nssv18319148	deletion	OSC8750	SNP array	Probe signal intensity	9
nssv18319568	deletion	OSC8686	SNP array	Probe signal intensity	nssv18319570, nssv18319040, nssv18319569

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18302616	Remapped	Perfect	NC_000019.10:g.(?_ 40843734)_(4087530 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nssv18316058	Remapped	Perfect	NC_000019.10:g.(?_ 40843734)_(4087530 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nssv18318383	Remapped	Perfect	NC_000019.10:g.(?_ 40843734)_(4087530 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nssv18318421	Remapped	Perfect	NC_000019.10:g.(?_ 40843734)_(4087530 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nssv18319148	Remapped	Perfect	NC_000019.10:g.(?_ 40843734)_(4087530 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nssv18319568	Remapped	Perfect	NC_000019.10:g.(?_ 40843734)_(4087530 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,843,734	40,875,307
nssv18302616	Submitted genomic		NC_000019.9:g.(?_4 1349639)_(41381212 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,349,639	41,381,212
nssv18316058	Submitted genomic		NC_000019.9:g.(?_4 1349639)_(41381212 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,349,639	41,381,212
nssv18318383	Submitted genomic		NC_000019.9:g.(?_4 1349639)_(41381212 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,349,639	41,381,212
nssv18318421	Submitted genomic		NC_000019.9:g.(?_4 1349639)_(41381212 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,349,639	41,381,212
nssv18319148	Submitted genomic		NC_000019.9:g.(?_4 1349639)_(41381212 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,349,639	41,381,212
nssv18319568	Submitted genomic		NC_000019.9:g.(?_4 1349639)_(41381212 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,349,639	41,381,212

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

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