A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462458



Internal ID8489505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135012266..135070292hg38UCSC Ensembl
Innerchr5:134347956..134405982hg19UCSC Ensembl
Innerchr5:134375855..134433881hg18UCSC Ensembl
Innerchr5:134375855..134433881hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3858027
hg1958027
hg1858027
hg1758027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538614
SamplesNINDS_60
Known GenesC5orf66, LOC101927953, PITX1
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)nsv462458
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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