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dbVar

Database of genomic structural variation

nsv4384497

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:25,338

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

Remapped(Score: Perfect):72,307,577-72,332,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384497	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	72,307,577	72,332,914
nsv4384497	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	19,844	45,181
nsv4384497	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	72,773,260	72,798,597

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15618787	copy number loss	1-0888-003	SNP array	Genotyping	21
nssv15700483	copy number loss	144445	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15618787	Remapped	Perfect	NW_018654707.1:g.( ?_19844)_(45181_?) del	GRCh38.p12	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	19,844	45,181
nssv15700483	Remapped	Perfect	NW_018654707.1:g.( ?_19844)_(45181_?) del	GRCh38.p12	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	19,844	45,181
nssv15618787	Remapped	Perfect	NC_000001.11:g.(?_ 72307577)_(7233291 4_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,307,577	72,332,914
nssv15700483	Remapped	Perfect	NC_000001.11:g.(?_ 72307577)_(7233291 4_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,307,577	72,332,914
nssv15618787	Submitted genomic		NC_000001.10:g.(?_ 72773260)_(7279859 7_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	72,773,260	72,798,597
nssv15700483	Submitted genomic		NC_000001.10:g.(?_ 72773260)_(7279859 7_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	72,773,260	72,798,597

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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