A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946135



Internal ID18246299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110294217..110297253hg38UCSC Ensembl
Innerchr1:110836839..110839875hg19UCSC Ensembl
Innerchr1:110638362..110641398hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383037
hg193037
hg183037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782498, nssv1782495, nssv1782497, nssv1782489, nssv1782491, nssv1782493, nssv1782496, nssv1782494, nssv1782490, nssv1782492
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC440600
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946135
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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