A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542731



Internal ID15162976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:97366492..97414113hg38UCSC Ensembl
Innerchr10:99126249..99173870hg19UCSC Ensembl
Innerchr10:99116239..99163860hg18UCSC Ensembl
Innerchr10:99116239..99163860hg17UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3847622
hg1947622
hg1847622
hg1747622
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467438
Supporting Variants
SamplesHGDP01060
Known GenesRRP12
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)nssv542731
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