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dbVar

Database of genomic structural variation

nsv6605940

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:320

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: 157 SVs from 52 studies. See in: genome view

Submitted genomic105,119,978-105,120,297

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6605940	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	105,119,978	105,120,297
nsv6605940	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	105,567,853	105,568,172

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18134688	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18134688	Submitted genomic		NC_000006.12:g.105 119978_105120297de l	GRCh38 (hg38)		NC_000006.12	Chr6	105,119,978	105,120,297
nssv18134688	Remapped	Perfect	NC_000006.11:g.105 567853_105568172de l	GRCh37.p13	First Pass	NC_000006.11	Chr6	105,567,853	105,568,172

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)
nssv18134688	0.947	34498	36446

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