A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125147



Internal ID19287262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:2636959..2656559hg38UCSC Ensembl
OuterchrY:2505000..2524600hg19UCSC Ensembl
CytobandYp11.31
Allele length
AssemblyAllele length
hg3819601
hg1919601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977953
SamplesKWS2
Known GenesCD99P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125147
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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