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dbVar

Database of genomic structural variation

nsv6128121

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:673

Description:nsv5523859 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: 457 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):80,070,806-80,071,478

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6128121	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	80,070,806	80,071,478
nsv6128121	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	77,830,806	77,831,478

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958843	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958843	Remapped	Perfect	NC_000018.10:g.800 70806_80071478del	GRCh38.p12	First Pass	NC_000018.10	Chr18	80,070,806	80,071,478
nssv17958843	Submitted genomic		NC_000018.9:g.7783 0806_77831478del	GRCh37 (hg19)		NC_000018.9	Chr18	77,830,806	77,831,478

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)
nssv17958843	0.102	641	6300

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