A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362634



Internal ID22276594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579048..6579177hg38UCSC Ensembl
chr12:6688214..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527436
Supporting Variants
SamplesNA19239
Known GenesCHD4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362634
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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