A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1914865



Internal ID17763505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9287160..9317183hg38UCSC Ensembl
Innerchr12:9439756..9469779hg19UCSC Ensembl
Innerchr12:9331023..9361046hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3830024
hg1930024
hg1830024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975441
Supporting Variants
SamplesHGDP00542
Known GenesLOC642846
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1914865
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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