A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2761180



Internal ID17411430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2137145..2148424hg38UCSC Ensembl
Innerchr12:2246311..2257590hg19UCSC Ensembl
Innerchr12:2116572..2127851hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811280
hg1911280
hg1811280
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973981
Supporting Variants
SamplesHGDP00521
Known GenesCACNA1C
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2761180
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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