A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175460



Internal ID15880274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28429860..28476043hg38UCSC Ensembl
Innerchr12:28582793..28628976hg19UCSC Ensembl
Innerchr12:28474060..28520243hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3846184
hg1946184
hg1846184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557884
Supporting Variants
SamplesNINDS_183
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175460
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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