A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961915



Internal ID18597161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177995334..177998725hg38UCSC Ensembl
Innerchr2:178860061..178863452hg19UCSC Ensembl
Innerchr2:178568307..178571698hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383392
hg193392
hg183392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2213491, nssv2213489, nssv2213486, nssv2213493, nssv2213487, nssv2213485, nssv2213490, nssv2213488, nssv2213484, nssv2213492
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDE11A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961915
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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