A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981429



Internal ID18616626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5999466..6002953hg38UCSC Ensembl
Innerchr7:6039097..6042584hg19UCSC Ensembl
Innerchr7:6005623..6009110hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg383488
hg193488
hg183488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2708536, nssv2708531, nssv2708532, nssv2708528, nssv2708533, nssv2708530, nssv2708527, nssv2708535, nssv2708529, nssv2708534
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981429
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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