A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003753



Internal ID70128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139587739..139588179hg38UCSC Ensembl
chr7:139272485..139272925hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142585
Supporting Variants
Samples
Known GenesHIPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003753
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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