A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035722



Internal ID19124941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148926hg38UCSC Ensembl
Innerchr12:2245850..2258092hg19UCSC Ensembl
Innerchr12:2116111..2128353hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812243
hg1912243
hg1812243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3711674, nssv3511226, nssv3521533, nssv3506210, nssv3711671, nssv3519267, nssv3711677, nssv3515674, nssv3510418, nssv3711678, nssv3521748, nssv3513873, nssv3711675, nssv3506357, nssv3711672, nssv3503760, nssv3711676, nssv3711673, nssv3522237
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035722
Frequency
Sample Size11257
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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