A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462487



Internal ID15175866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150203773..150217392hg38UCSC Ensembl
Innerchr5:149583336..149596955hg19UCSC Ensembl
Innerchr5:149563529..149577148hg18UCSC Ensembl
Innerchr5:149563529..149577148hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3813620
hg1913620
hg1813620
hg1713620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538640
SamplesNINDS_78
Known GenesSLC6A7
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)nsv462487
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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