A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965688



Internal ID18254232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:24498593..24502818hg38UCSC Ensembl
Innerchr6:24498821..24503046hg19UCSC Ensembl
Innerchr6:24606800..24611025hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg384226
hg194226
hg184226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2394703, nssv2394705, nssv2394701, nssv2394697, nssv2394706, nssv2394700, nssv2394699, nssv2394698, nssv2394704, nssv2394702
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALDH5A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965688
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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