A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976026



Internal ID18264547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108783667..108787240hg38UCSC Ensembl
Innerchr12:109177443..109181016hg19UCSC Ensembl
Innerchr12:107701572..107705145hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383574
hg193574
hg183574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2762737
SamplesHGDP00998
Known GenesSSH1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976026
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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