A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964969



Internal ID18600204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174561653..174562750hg38UCSC Ensembl
Innerchr5:173988656..173989753hg19UCSC Ensembl
Innerchr5:173921262..173922359hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381098
hg191098
hg181098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386384, nssv2386379, nssv2386387, nssv2386386, nssv2386385, nssv2386388, nssv2386382, nssv2386381, nssv2386383, nssv2386380
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964969
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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