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dbVar

Database of genomic structural variation

nsv6503603

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:14,882

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: 158 SVs from 36 studies. See in: genome view

Submitted genomic28,228,057-28,242,938

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6503603	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	28,228,057	28,242,938
nsv6503603	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	28,239,378	28,254,259

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18195995	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18195995	Submitted genomic		NC_000016.10:g.282 28057_28242938dup	GRCh38 (hg38)		NC_000016.10	Chr16	28,228,057	28,242,938
nssv18195995	Remapped	Perfect	NC_000016.9:g.2823 9378_28254259dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	28,239,378	28,254,259

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)
nssv18195995	<0.001	2	39276

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