A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970514



Internal ID18605736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66422897..66426276hg38UCSC Ensembl
Innerchr7:65887884..65891263hg19UCSC Ensembl
Innerchr7:65525319..65528698hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg383380
hg193380
hg183380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2458710, nssv2458713, nssv2458712, nssv2458709, nssv2458708, nssv2458706, nssv2458707, nssv2458714, nssv2458705, nssv2458711
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)nsv970514
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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