A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469411



Internal ID15182790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57450266..57527405hg38UCSC Ensembl
Innerchr12:57844049..57921188hg19UCSC Ensembl
Innerchr12:56130316..56207455hg18UCSC Ensembl
Innerchr12:56130316..56207455hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3877140
hg1977140
hg1877140
hg1777140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544275
SamplesNINDS_70
Known GenesARHGAP9, DDIT3, GLI1, INHBC, INHBE, MARS, MBD6, MIR6758
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)nsv469411
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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