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dbVar

Database of genomic structural variation

nsv6478520

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:380,934

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: 1421 SVs from 76 studies. See in: genome view

Submitted genomic21,018,228-21,399,161

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6478520	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	21,018,228	21,399,161
nsv6478520	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	21,486,387	21,867,320

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18196401	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18196401	Submitted genomic		NC_000014.9:g.2101 8228_21399161dup	GRCh38 (hg38)		NC_000014.9	Chr14	21,018,228	21,399,161
nssv18196401	Remapped	Perfect	NC_000014.8:g.2148 6387_21867320dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	21,486,387	21,867,320

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)
nssv18196401	<0.001	1	39296

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