A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111316



Internal ID18909733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:42936096..42936172hg38UCSC Ensembl
Outerchr6:42903834..42903910hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963394
SamplesKWS1
Known GenesCNPY3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111316
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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