A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967341



Internal ID18602569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75356978..75380459hg38UCSC Ensembl
Innerchr7:74986218..75009736hg19UCSC Ensembl
Innerchr7:74824154..74847672hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3823482
hg1923519
hg1823519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2716733, nssv2716731, nssv2716737, nssv2716738, nssv2716734, nssv2716736, nssv2716732, nssv2716729, nssv2716735, nssv2716730
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2P5, STAG3L1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967341
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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