A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195119



Internal ID22345342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:6240537..6267297hg38UCSC Ensembl
OuterchrY:6108578..6135338hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3826761
hg1926761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271162, nssv14271161
SamplesHG00512, NA19239
Known GenesTSPY2, TTTY23, TTTY23B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195119
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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