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dbVar

Database of genomic structural variation

nsv6625610

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:54,694

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: 1492 SVs from 97 studies. See in: genome view

Remapped(Score: Good):12,806,763-12,861,456

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625610	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	12,806,763	12,861,456
nsv6625610	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	1	42,969
nsv6625610	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	12,866,899	12,921,311

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18298552	duplication	OSC5141	SNP array	Probe signal intensity	8
nssv18300480	deletion	OSC0005	SNP array	Probe signal intensity	12
nssv18323374	deletion	OSC0012	SNP array	Probe signal intensity	10

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18298552	Remapped	Pass	NW_012132914.1:g.( ?_1)_(42969_?)dup	GRCh38.p12	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	1	42,969
nssv18300480	Remapped	Pass	NW_012132914.1:g.( ?_1)_(42969_?)del	GRCh38.p12	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	1	42,969
nssv18323374	Remapped	Pass	NW_012132914.1:g.( ?_1)_(42969_?)del	GRCh38.p12	Second Pass	NW_012132914.1	Chr1\|NW_01 2132914.1	1	42,969
nssv18298552	Remapped	Good	NC_000001.11:g.(?_ 12806763)_(1286145 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,806,763	12,861,456
nssv18300480	Remapped	Good	NC_000001.11:g.(?_ 12806763)_(1286145 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,806,763	12,861,456
nssv18323374	Remapped	Good	NC_000001.11:g.(?_ 12806763)_(1286145 6_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,806,763	12,861,456
nssv18298552	Submitted genomic		NC_000001.10:g.(?_ 12866899)_(1292131 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	12,866,899	12,921,311
nssv18300480	Submitted genomic		NC_000001.10:g.(?_ 12866899)_(1292131 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	12,866,899	12,921,311
nssv18323374	Submitted genomic		NC_000001.10:g.(?_ 12866899)_(1292131 1_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	12,866,899	12,921,311

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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