A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325128



Internal ID22206290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157053383..157054191hg38UCSC Ensembl
chr5:156480394..156481202hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38809
hg19809
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194837
Supporting Variants
SamplesHG00732
Known GenesHAVCR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325128
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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