A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964956



Internal ID18600191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140875448..140876155hg38UCSC Ensembl
Innerchr5:140255033..140255740hg19UCSC Ensembl
Innerchr5:140235217..140235924hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38708
hg19708
hg18708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379650, nssv2379647, nssv2379642, nssv2379649, nssv2379646, nssv2379643, nssv2379645, nssv2379644, nssv2379641, nssv2379648
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, 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)nsv964956
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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