A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431718



Internal ID21393720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2254835..2256834hg38UCSC Ensembl
chr12:2364001..2366000hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15748099, nssv15745893, nssv15752758, nssv15745691, nssv15746005, nssv15751337, nssv15746827, nssv15754331, nssv15754006
SamplesNB12, NB08, BTQ038, BTQ055, BTQ016, SMI041, NB11, NB07, NB09
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431718
Frequency
Sample Size15
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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