A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118512



Internal ID19279333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132731714..132733414hg38UCSC Ensembl
Outerchr12:133308300..133310000hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv916n106
Supporting Variantsnssv3959021
SamplesKWS1
Known GenesANKLE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118512
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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