A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113050



Internal ID19286478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:8149659..8154259hg38UCSC Ensembl
OuterchrY:8017700..8022300hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967942
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113050
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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