A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464195



Internal ID15524260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161723213..161733002hg38UCSC Ensembl
Innerchr1:161693003..161702792hg19UCSC Ensembl
Innerchr1:159959627..159969416hg18UCSC Ensembl
Innerchr1:158424661..158434450hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg389790
hg199790
hg189790
hg179790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540144
Samples1780854158_A
Known GenesFCRLB
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)nsv464195
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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