A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2114131



Internal ID17424051
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 StatusS
Merged Variantsnsv960246
Supporting Variants
SamplesHGDP00542
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2114131
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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