A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968252



Internal ID18256794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140883153..140884255hg38UCSC Ensembl
Innerchr5:140262738..140263840hg19UCSC Ensembl
Innerchr5:140242922..140244024hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381103
hg191103
hg181103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379841, nssv2379843, nssv2379836, nssv2379842, nssv2379840, nssv2379835, nssv2379837, nssv2379839, nssv2379838, nssv2379844
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968252
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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