A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297961



Internal ID22302640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238144201..238153350hg38UCSC Ensembl
chr2:239052842..239061991hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208484
Supporting Variants
SamplesNA19240
Known GenesKLHL30
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297961
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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