A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542313



Internal ID15504644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34210719..34274997hg38UCSC Ensembl
Innerchr10:34499647..34563925hg19UCSC Ensembl
Innerchr10:34539653..34603931hg18UCSC Ensembl
Innerchr10:34539653..34603931hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3864279
hg1964279
hg1864279
hg1764279
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466859
Supporting Variants
Samples1788485381_A
Known GenesPARD3
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)nssv542313
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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