A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542682



Internal ID15511944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70555458..70584823hg38UCSC Ensembl
Innerchr10:72315214..72344579hg19UCSC Ensembl
Innerchr10:71985220..72014585hg18UCSC Ensembl
Innerchr10:71985220..72014585hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3829366
hg1929366
hg1829366
hg1729366
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467367
Supporting Variants
SamplesNINDS_173
Known GenesPALD1
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)nssv542682
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