A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271195



Internal ID22184265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:3767857..3874496hg38UCSC Ensembl
OuterchrY:3635898..3742537hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38106640
hg19106640
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207761
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271195
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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