A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457695



Internal ID15517760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15544050..15708181hg38UCSC Ensembl
Innerchr17:15447364..15611495hg19UCSC Ensembl
Innerchr17:15388089..15552220hg18UCSC Ensembl
Innerchr17:15388089..15552220hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38164132
hg19164132
hg18164132
hg17164132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534829
SamplesHGDP00800
Known GenesCDRT1, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A
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)nsv457695
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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