A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142973



Internal ID18930255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178757146..178757206hg38UCSC Ensembl
Outerchr2:179621873..179621933hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2101n106
Supporting Variantsnssv3979743
SamplesKWS2
Known GenesTTN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142973
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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