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dbVar

Database of genomic structural variation

nsv4370268

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:45,594

Publication(s):Zarrei et al. 2019

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

Remapped(Score: Perfect):72,307,577-72,344,209

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4370268	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	72,307,577	72,344,209
nsv4370268	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	19,844	65,437
nsv4370268	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	72,773,260	72,809,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15640397	copy number loss	14-0152-004	SNP array	Genotyping	19
nssv15649987	copy number loss	2-1425-001	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15640397	Remapped	Pass	NW_018654707.1:g.( ?_19844)_(65437_?) del	GRCh38.p12	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	19,844	65,437
nssv15649987	Remapped	Pass	NW_018654707.1:g.( ?_19844)_(65437_?) del	GRCh38.p12	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	19,844	65,437
nssv15640397	Remapped	Perfect	NC_000001.11:g.(?_ 72307577)_(7234420 9_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,307,577	72,344,209
nssv15649987	Remapped	Perfect	NC_000001.11:g.(?_ 72307577)_(7234420 9_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,307,577	72,344,209
nssv15640397	Submitted genomic		NC_000001.10:g.(?_ 72773260)_(7280989 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	72,773,260	72,809,892
nssv15649987	Submitted genomic		NC_000001.10:g.(?_ 72773260)_(7280989 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	72,773,260	72,809,892

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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