A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271200



Internal ID22184298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:23214497..23285883hg38UCSC Ensembl
OuterchrY:25360644..25432030hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3871387
hg1971387
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208657
Supporting Variants
SamplesHG00731
Known GenesDAZ2, DAZ3, DAZ4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271200
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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