A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961412



Internal ID18596658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68526082..68530546hg38UCSC Ensembl
Innerchr2:68753214..68757678hg19UCSC Ensembl
Innerchr2:68606718..68611182hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384465
hg194465
hg184465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n82
Supporting Variantsnssv2661797, nssv2661803, nssv2661804, nssv2661800, nssv2661796, nssv2661795, nssv2661798, nssv2661802, nssv2661799, nssv2661801
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAPLF
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961412
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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