A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462257



Internal ID15522322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:97669437..97772855hg38UCSC Ensembl
Innerchr5:97005141..97108559hg19UCSC Ensembl
Innerchr5:97030897..97134315hg18UCSC Ensembl
Innerchr5:97030897..97134315hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38103419
hg19103419
hg18103419
hg17103419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv712n27
Supporting Variantsnssv538467
SamplesHGDP01399
Known GenesLOC102546227
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)nsv462257
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