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dbVar

Database of genomic structural variation

nsv6371790

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:3,300

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: 167 SVs from 44 studies. See in: genome view

Submitted genomic11,068,401-11,071,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6371790	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	11,068,401	11,071,700
nsv6371790	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	11,110,087	11,113,386

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18207247	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18207247	Submitted genomic		NC_000003.12:g.110 68401_11071700dup	GRCh38 (hg38)		NC_000003.12	Chr3	11,068,401	11,071,700
nssv18207247	Remapped	Perfect	NC_000003.11:g.111 10087_11113386dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	11,110,087	11,113,386

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)
nssv18207247	<0.001	26	38688

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