A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994391



Internal ID18869121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2105934..2106334hg38UCSC Ensembl
Outerchr12:2215100..2215500hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143700
Supporting Variants
SamplesKWS1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994391
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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