A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932823



Internal ID17499156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56106326..56113947hg38UCSC Ensembl
Innerchr12:56500110..56507731hg19UCSC Ensembl
Innerchr12:54786377..54793998hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387622
hg197622
hg187622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973075
Supporting Variants
SamplesHGDP01029
Known GenesPA2G4
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)nssv1932823
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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