A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143962



Internal ID18917272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:158456788..158457288hg38UCSC Ensembl
Outerchr2:159313300..159313800hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994674
SamplesKWS1
Known GenesPKP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143962
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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