A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981474



Internal ID18616671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56059430..56063719hg38UCSC Ensembl
Innerchr7:56127123..56131412hg19UCSC Ensembl
Innerchr7:56094617..56098906hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg384290
hg194290
hg184290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2449877, nssv2449876, nssv2449878, nssv2449872, nssv2449871, nssv2449869, nssv2449875, nssv2449873, nssv2449874, nssv2449870
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCT6A, SNORA15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981474
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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