A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516496



Internal ID15097103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2127676..2158977hg38UCSC Ensembl
Innerchr12:2236842..2268143hg19UCSC Ensembl
Innerchr12:2107103..2138404hg18UCSC Ensembl
Innerchr12:2107103..2138404hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3831302
hg1931302
hg1831302
hg1731302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688157, nssv673370, nssv670230, nssv653009, nssv693029, nssv691366, nssv678119, nssv679490, nssv652062, nssv678470, nssv662486, nssv653949, nssv693132, nssv669882, nssv673276, nssv693186, nssv702208, nssv677845, nssv661222, nssv664404, nssv676443, nssv683258, nssv656446, nssv673001, nssv677401, nssv674997, nssv693627, nssv655024, nssv688441, nssv657039, nssv675958, nssv658912, nssv692605, nssv675758, nssv688859, nssv662508, nssv655878, nssv689122, nssv664478, nssv676821, nssv663920, nssv676573, nssv668950, nssv671319, nssv679272, nssv675209, nssv691748, nssv676805, nssv686442, nssv688613, nssv682168, nssv684096, nssv674272, nssv690640, nssv691367, nssv652525, nssv656258, nssv692626, nssv692668, nssv693308, nssv686612, nssv653111, nssv691203, nssv653499, nssv652707, nssv659083, nssv687472, nssv655277, nssv666364, nssv690598, nssv685036, nssv664425, nssv690209, nssv663371
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516496
Frequency
Sample Size2026
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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