A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1919497



Internal ID17869914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24642570..24643739hg38UCSC Ensembl
Innerchr12:24795504..24796673hg19UCSC Ensembl
Innerchr12:24686771..24687940hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976587
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1919497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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