A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271186



Internal ID22184356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:4190178..4259457hg38UCSC Ensembl
OuterchrY:4058219..4127498hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3869280
hg1969280
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197794
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271186
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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