A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1912759



Internal ID17764139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7792739..7795779hg38UCSC Ensembl
Innerchr12:7945335..7948375hg19UCSC Ensembl
Innerchr12:7836602..7839642hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383041
hg193041
hg183041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973012
Supporting Variants
SamplesHGDP00542
Known GenesNANOG
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)nssv1912759
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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