A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968954



Internal ID18604182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78643374..78644982hg38UCSC Ensembl
Innerchr5:77939197..77940805hg19UCSC Ensembl
Innerchr5:77974953..77976561hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381609
hg191609
hg181609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2364611, nssv2364613, nssv2364614, nssv2364617, nssv2364615, nssv2364618, nssv2364612, nssv2364619, nssv2364620, nssv2364616
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLHFPL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968954
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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