A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763149



Internal ID17736367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56941643..56982909hg38UCSC Ensembl
Innerchr12:57335427..57376693hg19UCSC Ensembl
Innerchr12:55621694..55662960hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3841267
hg1941267
hg1841267
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975650
Supporting Variants
SamplesHGDP00456
Known GenesRDH16
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763149
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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