A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968174



Internal ID18603402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53858314..53860422hg38UCSC Ensembl
Innerchr5:53154144..53156252hg19UCSC Ensembl
Innerchr5:53189901..53192009hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382109
hg192109
hg182109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2355540, nssv2355545, nssv2355538, nssv2355543, nssv2355546, nssv2355539, nssv2355541, nssv2355544, nssv2355537, nssv2355542
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968174
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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