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dbVar

Database of genomic structural variation

nsv6625815

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:13,570

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: 1123 SVs from 86 studies. See in: genome view

Remapped(Score: Good):12,847,848-12,861,417

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625815	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	12,847,848	12,861,417
nsv6625815	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	29,361	42,930
nsv6625815	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	12,907,701	12,921,272

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18285961	deletion	OSC2704	SNP array	Probe signal intensity	9
nssv18288666	deletion	OSC3321	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
nssv18285961	Remapped	Good	NW_012132914.1:g.( ?_29361)_(42930_?) del	GRCh38.p12	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	29,361	42,930
nssv18288666	Remapped	Good	NW_012132914.1:g.( ?_29361)_(42930_?) del	GRCh38.p12	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	29,361	42,930
nssv18285961	Remapped	Good	NC_000001.11:g.(?_ 12847848)_(1286141 7_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,847,848	12,861,417
nssv18288666	Remapped	Good	NC_000001.11:g.(?_ 12847848)_(1286141 7_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,847,848	12,861,417
nssv18285961	Submitted genomic		NC_000001.10:g.(?_ 12907701)_(1292127 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	12,907,701	12,921,272
nssv18288666	Submitted genomic		NC_000001.10:g.(?_ 12907701)_(1292127 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	12,907,701	12,921,272

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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