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dbVar

Database of genomic structural variation

nsv6373092

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:9,015

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: 105 SVs from 25 studies. See in: genome view

Submitted genomic129,309,491-129,318,505

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6373092	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	129,309,491	129,318,505
nsv6373092	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	129,028,334	129,037,348

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18093214	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18093214	Submitted genomic		NC_000003.12:g.129 309491_129318505de l	GRCh38 (hg38)		NC_000003.12	Chr3	129,309,491	129,318,505
nssv18093214	Remapped	Perfect	NC_000003.11:g.129 028334_129037348de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	129,028,334	129,037,348

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)
nssv18093214	<0.001	1	39254

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