A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134190



Internal ID18905369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2414070..2414128hg38UCSC Ensembl
Outerchr12:2523236..2523294hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995451, nssv3971674
SamplesKWS1, KWS2
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134190
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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