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dbVar

Database of genomic structural variation

nsv6128415

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:362

Description:nsv5515000 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: 492 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):79,739,830-79,740,191

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6128415	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	79,739,830	79,740,191
nsv6128415	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	77,499,830	77,500,191

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958831	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958831	Remapped	Perfect	NC_000018.10:g.797 39830_79740191del	GRCh38.p12	First Pass	NC_000018.10	Chr18	79,739,830	79,740,191
nssv17958831	Submitted genomic		NC_000018.9:g.7749 9830_77500191del	GRCh37 (hg19)		NC_000018.9	Chr18	77,499,830	77,500,191

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)
nssv17958831	0.489	3134	6404

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