A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960245



Internal ID18248812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3580077..3581813hg38UCSC Ensembl
Innerchr18:3580075..3581811hg19UCSC Ensembl
Innerchr18:3570075..3571811hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2113763, nssv2113762, nssv2113771, nssv2113765, nssv2113767, nssv2113768, nssv2113764, nssv2113766, nssv2113769, nssv2113770
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDLGAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960245
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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