A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964961



Internal ID18600196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141246413..141247886hg38UCSC Ensembl
Innerchr5:140625981..140627454hg19UCSC Ensembl
Innerchr5:140606165..140607638hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381474
hg191474
hg181474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381608, nssv2381606, nssv2381605, nssv2381607, nssv2381603, nssv2381602, nssv2381600, nssv2381609, nssv2381604, nssv2381601
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964961
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer