A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960246



Internal ID18248813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3977685..3978685hg38UCSC Ensembl
Innerchr18:3977685..3978685hg19UCSC Ensembl
Innerchr18:3967685..3968685hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2114126, nssv2114133, nssv2114128, nssv2114130, nssv2114127, nssv2114129, nssv2114132, nssv2114131, nssv2114134, nssv2114125
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960246
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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