A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1911324



Internal ID17736138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5927909..5930324hg38UCSC Ensembl
Innerchr12:6037075..6039490hg19UCSC Ensembl
Innerchr12:5907336..5909751hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973005
Supporting Variants
SamplesHGDP00456
Known GenesANO2
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)nssv1911324
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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