A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967059



Internal ID18602288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125961987..125987093hg38UCSC Ensembl
Innerchr3:125680830..125705936hg19UCSC Ensembl
Innerchr3:127163520..127188626hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3825107
hg1925107
hg1825107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2295694, nssv2295698, nssv2295695, nssv2295696, nssv2295702, nssv2295699, nssv2295701, nssv2295703, nssv2295697, nssv2295700
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesROPN1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967059
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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