A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197794



Internal ID22347631
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271185, nssv14271186
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197794
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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