A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970479



Internal ID18605701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54934120..54939396hg38UCSC Ensembl
Innerchr7:55001813..55007089hg19UCSC Ensembl
Innerchr7:54969307..54974583hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg385277
hg195277
hg185277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2448392, nssv2448396, nssv2448388, nssv2448389, nssv2448395, nssv2448390, nssv2448387, nssv2448391, nssv2448393, nssv2448394
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)nsv970479
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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