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dbVar

Database of genomic structural variation

nsv6296793

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:84

Description:nsv5440066 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: 111 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):190,845,975-190,846,058

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6296793	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	190,845,975	190,846,058
nsv6296793	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	190,563,764	190,563,847

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17665171	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17665171	Remapped	Perfect	NC_000003.12:g.190 845975_190846058du p	GRCh38.p12	First Pass	NC_000003.12	Chr3	190,845,975	190,846,058
nssv17665171	Submitted genomic		NC_000003.11:g.190 563764_190563847du p	GRCh37 (hg19)		NC_000003.11	Chr3	190,563,764	190,563,847

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)
nssv17665171	0.439	215	490

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