A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968249



Internal ID18603477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139027795..139039946hg38UCSC Ensembl
Innerchr5:138363484..138375635hg19UCSC Ensembl
Innerchr5:138391383..138403534hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3812152
hg1912152
hg1812152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378709, nssv2378710, nssv2378702, nssv2378706, nssv2378703, nssv2378704, nssv2378707, nssv2378701, nssv2378705, nssv2378708
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSIL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968249
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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