A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542056



Internal ID15165977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114145273..114167914hg38UCSC Ensembl
Innerchr9:116907553..116930194hg19UCSC Ensembl
Innerchr9:115947374..115970015hg18UCSC Ensembl
Innerchr9:113987107..114009748hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3822642
hg1922642
hg1822642
hg1722642
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466529
Supporting Variants
SamplesNINDS_49
Known GenesCOL27A1
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)nssv542056
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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