A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997952



Internal ID18847467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2462256..2462372hg38UCSC Ensembl
Outerchr12:2571422..2571538hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152915
Supporting Variants
SamplesKWB1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997952
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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