A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945897



Internal ID18246061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40071410..40072598hg38UCSC Ensembl
Innerchr1:40537082..40538270hg19UCSC Ensembl
Innerchr1:40309669..40310857hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381189
hg191189
hg181189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1760414, nssv1760418, nssv1760423, nssv1760416, nssv1760421, nssv1760417, nssv1760420, nssv1760415, nssv1760422, nssv1760419
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945897
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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