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dbVar

Database of genomic structural variation

nsv6612236

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:1,400

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: 104 SVs from 21 studies. See in: genome view

Submitted genomic129,855,401-129,856,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6612236	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	129,855,401	129,856,800
nsv6612236	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	130,176,546	130,177,945

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18137863	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18137863	Submitted genomic		NC_000006.12:g.129 855401_129856800de l	GRCh38 (hg38)		NC_000006.12	Chr6	129,855,401	129,856,800
nssv18137863	Remapped	Perfect	NC_000006.11:g.130 176546_130177945de l	GRCh37.p13	First Pass	NC_000006.11	Chr6	130,176,546	130,177,945

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)
nssv18137863	<0.001	2	38834

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