A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993242



Internal ID19233453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:24245853..24294053hg38UCSC Ensembl
OuterchrY:26392000..26440200hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3848201
hg1948201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141736
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993242
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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