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dbVar

Database of genomic structural variation

nsv6298518

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:14,761

Description:nsv5446732 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: 198 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):149,123,369-149,138,129

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6298518	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	149,123,369	149,138,129
nsv6298518	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	148,841,156	148,855,916

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17663195	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17663195	Remapped	Perfect	NC_000003.12:g.149 123369_149138129de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	149,123,369	149,138,129
nssv17663195	Submitted genomic		NC_000003.11:g.148 841156_148855916de l	GRCh37 (hg19)		NC_000003.11	Chr3	148,841,156	148,855,916

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)
nssv17663195	0.664	4050	6102

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