A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208657



Internal ID22356858
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271200
SamplesHG00731
Known GenesDAZ2, DAZ3, DAZ4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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