A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970929



Internal ID18259465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:106249918..106251336hg38UCSC Ensembl
Innerchr7:105890364..105891782hg19UCSC Ensembl
Innerchr7:105677600..105679018hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381419
hg191419
hg181419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2473048, nssv2473045, nssv2473049, nssv2473046, nssv2473047, nssv2474108, nssv2473050, nssv2474109, nssv2473044, nssv2473051
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNAMPT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970929
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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