A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540184



Internal ID15155246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167856247..167907378hg38UCSC Ensembl
Innerchr1:167825485..167876616hg19UCSC Ensembl
Innerchr1:166092109..166143240hg18UCSC Ensembl
Innerchr1:164557143..164608274hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851132
hg1951132
hg1851132
hg1751132
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464239
Supporting Variants
Samples1780854016_A
Known GenesADCY10
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)nssv540184
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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