A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371650



Internal ID22277040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93231329..93231425hg38UCSC Ensembl
chr13:93883582..93883678hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221635
Supporting Variants
SamplesNA19239
Known GenesGPC6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371650
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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