A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469181



Internal ID15529246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28365626..28476043hg38UCSC Ensembl
Innerchr12:28518559..28628976hg19UCSC Ensembl
Innerchr12:28409826..28520243hg18UCSC Ensembl
Innerchr12:28409826..28520243hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38110418
hg19110418
hg18110418
hg17110418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544142
SamplesNINDS_223
Known GenesCCDC91
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv469181
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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