A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541416



Internal ID15165109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172205975..172277987hg38UCSC Ensembl
Innerchr1:172175115..172247127hg19UCSC Ensembl
Innerchr1:170441738..170513750hg18UCSC Ensembl
Innerchr1:168906772..168978784hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3872013
hg1972013
hg1872013
hg1772013
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465650
Supporting Variants
SamplesNINDS_147
Known GenesDNM3
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)nssv541416
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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