A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945275



Internal ID18592126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210857850..210861296hg38UCSC Ensembl
Innerchr1:211031192..211034638hg19UCSC Ensembl
Innerchr1:209097815..209101261hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383447
hg193447
hg183447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1817103, nssv1817095, nssv1817096, nssv1817102, nssv1817098, nssv1817101, nssv1817099, nssv1817100, nssv1817097, nssv1817094
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKCNH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945275
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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