A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1933509



Internal ID17830335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57640635..57675154hg38UCSC Ensembl
Innerchr12:58034418..58068937hg19UCSC Ensembl
Innerchr12:56320685..56355204hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3834520
hg1934520
hg1834520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975499
Supporting Variants
SamplesHGDP00998
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)nssv1933509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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