A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760291



Internal ID17794980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100311948..100316200hg38UCSC Ensembl
Innerchr12:100705726..100709978hg19UCSC Ensembl
Innerchr12:99229857..99234109hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384253
hg194253
hg184253
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977143
Supporting Variants
SamplesHGDP00778
Known GenesSCYL2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760291
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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