A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968999



Internal ID18604227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141895749..141899765hg38UCSC Ensembl
Innerchr5:141275314..141279330hg19UCSC Ensembl
Innerchr5:141255498..141259514hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384017
hg194017
hg184017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2382191, nssv2382198, nssv2382200, nssv2382195, nssv2382197, nssv2382196, nssv2382193, nssv2382194, nssv2382192, nssv2382199
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC729080
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968999
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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