A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542712



Internal ID15502420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:84680093..84703258hg38UCSC Ensembl
Innerchr10:86439849..86463014hg19UCSC Ensembl
Innerchr10:86429829..86452994hg18UCSC Ensembl
Innerchr10:86429829..86452994hg17UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3823166
hg1923166
hg1823166
hg1723166
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467407
Supporting Variants
Samples1780854340_A
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)nssv542712
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