A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6608989



Internal ID20982060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116446477..116664211hg38UCSC Ensembl
chr7:116086531..116304265hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38217735
hg19217735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18219909
Samples
Known GenesCAV1, CAV2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6608989
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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