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dbVar

Database of genomic structural variation

nsv6127265

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:771

Description:nsv5520664 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: 272 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):9,815,290-9,816,060

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6127265	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	9,815,290	9,816,060
nsv6127265	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	9,815,287	9,816,057

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958391	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958391	Remapped	Perfect	NC_000018.10:g.981 5290_9816060del	GRCh38.p12	First Pass	NC_000018.10	Chr18	9,815,290	9,816,060
nssv17958391	Submitted genomic		NC_000018.9:g.9815 287_9816057del	GRCh37 (hg19)		NC_000018.9	Chr18	9,815,287	9,816,057

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)
nssv17958391	0.249	1595	6404

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