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dbVar

Database of genomic structural variation

nsv6370157

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:225,762

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: 463 SVs from 51 studies. See in: genome view

Submitted genomic154,401,751-154,627,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6370157	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	154,401,751	154,627,512
nsv6370157	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	154,119,540	154,345,301

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18096154	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18096154	Submitted genomic		NC_000003.12:g.154 401751_154627512de l	GRCh38 (hg38)		NC_000003.12	Chr3	154,401,751	154,627,512
nssv18096154	Remapped	Perfect	NC_000003.11:g.154 119540_154345301de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	154,119,540	154,345,301

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)
nssv18096154	<0.001	1	39272

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