A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973981



Internal ID18262508
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761180, nssv2766359
SamplesHGDP00521, HGDP00998
Known GenesCACNA1C
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973981
Frequency
Sample Size10
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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