A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970476



Internal ID18605698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51257831..51260642hg38UCSC Ensembl
Innerchr7:51325528..51328339hg19UCSC Ensembl
Innerchr7:51293022..51295833hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg382812
hg192812
hg182812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447762, nssv2447771, nssv2447766, nssv2447765, nssv2447767, nssv2447763, nssv2447769, nssv2447768, nssv2447770, nssv2447764
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOBL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970476
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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