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dbVar

Database of genomic structural variation

nsv6118058

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:271

Description:nsv5434233 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 173 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):60,467,405-60,467,675

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6118058	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	60,467,405	60,467,675
nsv6118058	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	60,694,540	60,694,810

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17961062	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17961062	Remapped	Perfect	NC_000002.12:g.604 67405_60467675del	GRCh38.p12	First Pass	NC_000002.12	Chr2	60,467,405	60,467,675
nssv17961062	Submitted genomic		NC_000002.11:g.606 94540_60694810del	GRCh37 (hg19)		NC_000002.11	Chr2	60,694,540	60,694,810

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17961062	0.435	2783	6404

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