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dbVar

Database of genomic structural variation

nsv6298267

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:214

Description:nsv5449971 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: 117 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):207,809,859-207,810,072

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6298267	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	207,809,859	207,810,072
nsv6298267	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	207,983,204	207,983,417

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17655959	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17655959	Remapped	Perfect	NC_000001.11:g.207 809859_207810072de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	207,809,859	207,810,072
nssv17655959	Submitted genomic		NC_000001.10:g.207 983204_207983417de l	GRCh37 (hg19)		NC_000001.10	Chr1	207,983,204	207,983,417

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)
nssv17655959	0.252	1072	4248

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