A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981452



Internal ID18269963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37374088..37375907hg38UCSC Ensembl
Innerchr7:37413691..37415510hg19UCSC Ensembl
Innerchr7:37380216..37382035hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381820
hg191820
hg181820
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2443807, nssv2443805, nssv2443804, nssv2443806, nssv2443810, nssv2443811, nssv2443809, nssv2443803, nssv2443808, nssv2443812
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesELMO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981452
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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