A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129124



Internal ID18924889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:25455253..25486853hg38UCSC Ensembl
OuterchrY:27601400..27633000hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3831601
hg1931601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961800
SamplesKWS1
Known GenesCSPG4P1Y, GOLGA2P2Y, GOLGA2P3Y
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129124
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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