A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2123207



Internal ID17865938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32512272..32515004hg38UCSC Ensembl
Innerchr18:30092235..30094967hg19UCSC Ensembl
Innerchr18:28346233..28348965hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382733
hg192733
hg182733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961043
Supporting Variants
SamplesHGDP01284
Known GenesWBP11P1
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)nssv2123207
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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