A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039224



Internal ID19128443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2138266..2149228hg38UCSC Ensembl
Innerchr12:2247432..2258394hg19UCSC Ensembl
Innerchr12:2117693..2128655hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810963
hg1910963
hg1810963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3516943, nssv3507484, nssv3521226, nssv3519366, nssv3513103, nssv3503974, nssv3504151, nssv3708076, nssv3708075, nssv3522548, nssv3503501, nssv3509549, nssv3515698, nssv3513234, nssv3505033, nssv3514545, nssv3509353, nssv3518955
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)nsv1039224
Frequency
Sample Size11257
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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