A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124679



Internal ID18921121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2352613..2352739hg38UCSC Ensembl
Outerchr12:2461779..2461905hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976734
SamplesKWS1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124679
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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