A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115948



Internal ID19280080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56673271..56771471hg38UCSC Ensembl
OuterchrY:58819400..58917600hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3898201
hg1998201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987609, nssv3978818
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115948
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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