A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557769



Internal ID15998492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23786618..23787054hg38UCSC Ensembl
Innerchr12:23939552..23939988hg19UCSC Ensembl
Innerchr12:23830819..23831255hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38437
hg19437
hg18437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789626, nssv789598, nssv789597, nssv789627, nssv789636, nssv789601, nssv789605, nssv789620, nssv789616, nssv789614, nssv789602, nssv789635, nssv789622, nssv789610, nssv789603, nssv789619, nssv789629, nssv789595, nssv789637, nssv789608, nssv789632, nssv789596, nssv789612, nssv789634, nssv789621, nssv789631, nssv789606, nssv789600, nssv789624, nssv789609, nssv789604, nssv789623, nssv789633, nssv789618, nssv789625, nssv789607, nssv789617, nssv789628, nssv789613, nssv789611, nssv789599, nssv789615, nssv789630
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557769
Frequency
Sample Size17421
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer