A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945332



Internal ID18592183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226436922..226439358hg38UCSC Ensembl
Innerchr1:226624623..226627059hg19UCSC Ensembl
Innerchr1:224691246..224693682hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382437
hg192437
hg182437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1821434, nssv1821433, nssv1821431, nssv1821435, nssv1821426, nssv1821430, nssv1821428, nssv1821432, nssv1821427, nssv1821429
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)nsv945332
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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