A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967058



Internal ID18602287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125702806..125955326hg38UCSC Ensembl
Innerchr3:125421650..125674169hg19UCSC Ensembl
Innerchr3:126904340..127156859hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38252521
hg19252520
hg18252520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2295600, nssv2295602, nssv2295598, nssv2295604, nssv2295605, nssv2295603, nssv2295597, nssv2295606, nssv2295599, nssv2295601
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALG1L, FAM86JP, MIR548I1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967058
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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