A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964951



Internal ID18600186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140827938..140829779hg38UCSC Ensembl
Innerchr5:140207523..140209364hg19UCSC Ensembl
Innerchr5:140187707..140189548hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381842
hg191842
hg181842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2380095, nssv2380096, nssv2380102, nssv2380094, nssv2380097, nssv2380103, nssv2380099, nssv2380101, nssv2380100, nssv2380098
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964951
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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