A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970872



Internal ID18606094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:67277796..67311131hg38UCSC Ensembl
Innerchr7:66742783..66776118hg19UCSC Ensembl
Innerchr7:66380218..66413553hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3833336
hg1933336
hg1833336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2460886, nssv2460884, nssv2460883, nssv2460889, nssv2460885, nssv2460891, nssv2460887, nssv2460888, nssv2460882, nssv2460890
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2P4, STAG3L4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970872
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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