A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129119



Internal ID19272719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11125424..11179324hg38UCSC Ensembl
OuterchrY:13281100..13335000hg19UCSC Ensembl
CytobandYq11.1
Allele length
AssemblyAllele length
hg3853901
hg1953901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961793
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129119
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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