A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983482



Internal ID18618676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25989324..25993423hg38UCSC Ensembl
Innerchr12:26142257..26146356hg19UCSC Ensembl
Innerchr12:26033524..26037623hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384100
hg194100
hg184100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2763296
SamplesHGDP00998
Known GenesRASSF8
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983482
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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