A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945310



Internal ID18592161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223643596..223644288hg38UCSC Ensembl
Innerchr1:223831298..223831990hg19UCSC Ensembl
Innerchr1:221897921..221898613hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1819896, nssv1819894, nssv1819900, nssv1819899, nssv1819891, nssv1819892, nssv1819893, nssv1819898, nssv1819897, nssv1819895
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCAPN8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945310
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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