A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1940544



Internal ID17531314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89500650..89502384hg38UCSC Ensembl
Innerchr12:89894427..89896161hg19UCSC Ensembl
Innerchr12:88418558..88420292hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381735
hg191735
hg181735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975519
Supporting Variants
SamplesHGDP01307
Known GenesPOC1B
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)nssv1940544
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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