A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149412



Internal ID19197765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:56673271..56771472hg38UCSC Ensembl
OuterchrY:58819399..58917600hg19UCSC Ensembl
CytobandYq12
Allele length
AssemblyAllele length
hg3898202
hg1998202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000716
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149412
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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