A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271194



Internal ID22116351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:25814035..25877920hg38UCSC Ensembl
OuterchrY:27960182..28024067hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3863886
hg1963886
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200083
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271194
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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