A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979148



Internal ID18614351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171516544..171518861hg38UCSC Ensembl
Innerchr2:172373054..172375371hg19UCSC Ensembl
Innerchr2:172081300..172083617hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382318
hg192318
hg182318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2211706, nssv2211701, nssv2211708, nssv2211707, nssv2211703, nssv2211704, nssv2211702, nssv2211705, nssv2211700, nssv2211699
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979148
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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