A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968165



Internal ID18603393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36182665..36183872hg38UCSC Ensembl
Innerchr5:36182767..36183974hg19UCSC Ensembl
Innerchr5:36218524..36219731hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2353259, nssv2353256, nssv2353262, nssv2353263, nssv2353261, nssv2353260, nssv2353254, nssv2353258, nssv2353257, nssv2353255
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSKP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968165
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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