A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457670



Internal ID15517735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:11312688..11330718hg38UCSC Ensembl
Innerchr17:11216005..11234035hg19UCSC Ensembl
Innerchr17:11156730..11174760hg18UCSC Ensembl
Innerchr17:11156730..11174760hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3818031
hg1918031
hg1818031
hg1718031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534805
Samples1780862001_A
Known GenesSHISA6
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)nsv457670
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