A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202964



Internal ID21341772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:782160..782160hg38UCSC Ensembl
chr7:821797..821797hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953050
Supporting Variants
SamplesHG002
Known GenesHEATR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202964
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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