A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967062



Internal ID18602291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129998869..130212862hg38UCSC Ensembl
Innerchr3:129717712..129931705hg19UCSC Ensembl
Innerchr3:131200402..131414395hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38213994
hg19213994
hg18213994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2296661, nssv2296659, nssv2296658, nssv2296660, nssv2296657, nssv2296662, nssv2296655, nssv2296663, nssv2296656, nssv2296664
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALG1L2, COL6A4P2, FAM86HP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967062
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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