A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961518



Internal ID18250078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151639863..151640564hg38UCSC Ensembl
Innerchr2:152496377..152497078hg19UCSC Ensembl
Innerchr2:152204623..152205324hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38702
hg19702
hg18702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2207989, nssv2207983, nssv2207982, nssv2207980, nssv2207986, nssv2207987, nssv2207988, nssv2207981, nssv2207984, nssv2207985
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNEB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961518
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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