A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331648



Internal ID22177997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11924211..11924387hg38UCSC Ensembl
chr1:11984268..11984444hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196792
Supporting Variants
SamplesHG00514
Known GenesKIAA2013
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14331648
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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