A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970470



Internal ID18605692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:42794918..42824903hg38UCSC Ensembl
Innerchr7:42834517..42864502hg19UCSC Ensembl
Innerchr7:42801042..42831027hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3829986
hg1929986
hg1829986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2446071, nssv2446079, nssv2446078, nssv2446080, nssv2446074, nssv2446072, nssv2446077, nssv2446073, nssv2446075, nssv2446076
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970470
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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