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dbVar

Database of genomic structural variation

nsv6348416

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:3,600

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: 215 SVs from 54 studies. See in: genome view

Submitted genomic96,005,501-96,009,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6348416	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	96,005,501	96,009,100
nsv6348416	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	96,671,249	96,674,848

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18210724	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18210724	Submitted genomic		NC_000002.12:g.960 05501_96009100dup	GRCh38 (hg38)		NC_000002.12	Chr2	96,005,501	96,009,100
nssv18210724	Remapped	Perfect	NC_000002.11:g.966 71249_96674848dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	96,671,249	96,674,848

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)
nssv18210724	0.002	83	38040

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