A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139589



Internal ID18935734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2107335..2107491hg38UCSC Ensembl
Outerchr12:2216501..2216657hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977175
SamplesKWS1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139589
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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