A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462232



Internal ID15522297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84722520..84816106hg38UCSC Ensembl
Innerchr5:84018338..84111924hg19UCSC Ensembl
Innerchr5:84054094..84147680hg18UCSC Ensembl
Innerchr5:84054094..84147680hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3893587
hg1993587
hg1893587
hg1793587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv710n27
Supporting Variantsnssv538446
SamplesHGDP00230
Known Genes
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)nsv462232
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