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dbVar

Database of genomic structural variation

nsv4534102

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:62

Publication(s):gnomAD_Structural_Variants

Links to Other Resources

Overlapping Genes

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: 34 SVs from 9 studies. See in: genome view

Remapped(Score: Perfect):34,712,994-34,713,055

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4534102	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	34,712,994	34,713,055
nsv4534102	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000020.10	Chr20	33,300,798	33,300,859

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15965504	duplication	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15965504	Remapped	Perfect	NC_000020.11:g.347 12994_34713055dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	34,712,994	34,713,055
nssv15965504	Submitted genomic		NC_000020.10:g.333 00798_33300859dup	GRCh37.p13		NC_000020.10	Chr20	33,300,798	33,300,859

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv15965504	0.002	38	21672

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