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dbVar

Database of genomic structural variation

nsv6529699

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:249,691

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: 1464 SVs from 90 studies. See in: genome view

Submitted genomic55,698,809-55,948,499

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6529699	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	55,698,809	55,948,499
nsv6529699	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	56,210,175	56,459,865

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18199639	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18199639	Submitted genomic		NC_000019.10:g.556 98809_55948499dup	GRCh38 (hg38)		NC_000019.10	Chr19	55,698,809	55,948,499
nssv18199639	Remapped	Perfect	NC_000019.9:g.5621 0175_56459865dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	56,210,175	56,459,865

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)
nssv18199639	<0.001	1	39262

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