A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2124225



Internal ID17804859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47136559..47138515hg38UCSC Ensembl
Innerchr18:44662930..44664886hg19UCSC Ensembl
Innerchr18:42916928..42918884hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381957
hg191957
hg181957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960277
Supporting Variants
SamplesHGDP00778
Known GenesHDHD2
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)nssv2124225
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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