A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970883



Internal ID18259419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75074880..75198892hg38UCSC Ensembl
Innerchr7:74490718..74614606hg19UCSC Ensembl
Innerchr7:74128654..74252542hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38124013
hg19123889
hg18123889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463636, nssv2463632, nssv2463629, nssv2463631, nssv2463627, nssv2463630, nssv2463635, nssv2463634, nssv2463628, nssv2463633
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1, GTF2IRD2, GTF2IRD2B, LOC100093631, NCF1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970883
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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