A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14370793



Internal ID22304607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91571765..91571765hg38UCSC Ensembl
chr13:92224019..92224019hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560070
Supporting Variants
SamplesNA19240
Known GenesGPC5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14370793
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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