A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968251



Internal ID18256793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140834013..140836526hg38UCSC Ensembl
Innerchr5:140213598..140216111hg19UCSC Ensembl
Innerchr5:140193782..140196295hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382514
hg192514
hg182514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379419, nssv2379417, nssv2379416, nssv2379414, nssv2379418, nssv2379412, nssv2379413, nssv2379411, nssv2379415, nssv2379420
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968251
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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