A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981535



Internal ID18616732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75393440..75515890hg38UCSC Ensembl
Innerchr7:75022714..75145215hg19UCSC Ensembl
Innerchr7:74860650..74983151hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38122451
hg19122502
hg18122502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2465925, nssv2465926, nssv2465924, nssv2465930, nssv2465928, nssv2465931, nssv2465927, nssv2465929, nssv2465933, nssv2465932
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC541473, NSUN5P1, PMS2P3, POM121C, SPDYE5, TRIM73, TRIM74
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981535
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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