A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457975



Internal ID15171354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81991355..82086850hg38UCSC Ensembl
Innerchr17:79949231..80044726hg19UCSC Ensembl
Innerchr17:77542520..77638015hg18UCSC Ensembl
Innerchr17:77542520..77638015hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3895496
hg1995496
hg1895496
hg1795496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535059
SamplesHGDP00546
Known GenesASPSCR1, DCXR, DUS1L, FASN, GPS1, LRRC45, RAC3, RFNG, STRA13
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)nsv457975
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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