A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457902



Internal ID15171281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74657093hg38UCSC Ensembl
Innerchr17:71834001..72653232hg19UCSC Ensembl
Innerchr17:69345596..70164827hg18UCSC Ensembl
Innerchr17:69345596..70164827hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38819232
hg19819232
hg18819232
hg17819232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv372n27
Supporting Variantsnssv535000
SamplesNINDS_131
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
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)nsv457902
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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