A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125165



Internal ID19269550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:57181049..57195749hg38UCSC Ensembl
OuterchrY:59327200..59341900hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3814701
hg1914701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977970
SamplesKWS2
Known GenesIL9R
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125165
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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