A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981574



Internal ID18270085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:123541170..123542874hg38UCSC Ensembl
Innerchr7:123181224..123182928hg19UCSC Ensembl
Innerchr7:122968460..122970164hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg381705
hg191705
hg181705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2476276, nssv2476280, nssv2476272, nssv2476279, nssv2476274, nssv2476275, nssv2476273, nssv2476278, nssv2476277, nssv2476281
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNDUFA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981574
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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