A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457976



Internal ID15171355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82035336..82176517hg38UCSC Ensembl
Innerchr17:79993212..80134393hg19UCSC Ensembl
Innerchr17:77586501..77727682hg18UCSC Ensembl
Innerchr17:77586501..77727682hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38141182
hg19141182
hg18141182
hg17141182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535060
SamplesHGDP00908
Known GenesCCDC57, DCXR, DUS1L, FASN, GPS1, RFNG
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)nsv457976
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