A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463117



Internal ID15176496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108829252hg38UCSC Ensembl
Innerchr1:109367944..109371874hg19UCSC Ensembl
Innerchr1:109169467..109173397hg18UCSC Ensembl
Innerchr1:109079986..109083916hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383931
hg193931
hg183931
hg173931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539147
Samples1780854202_A
Known GenesAKNAD1
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)nsv463117
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