A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069632



Internal ID18974294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2414069..2414128hg38UCSC Ensembl
chr12:2523235..2523294hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767072
SamplesKWP1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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