A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993226



Internal ID19246581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:240133..263133hg38UCSC Ensembl
OuterchrY:106800..129800hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3823001
hg1923001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141720
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993226
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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