A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468382



Internal ID15528447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231949739..232067274hg38UCSC Ensembl
Innerchr1:232085485..232203020hg19UCSC Ensembl
Innerchr1:230152108..230269643hg18UCSC Ensembl
Innerchr1:228392220..228509755hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38117536
hg19117536
hg18117536
hg17117536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543502
Samples1780862530_A
Known GenesDISC1, TSNAX-DISC1
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)nsv468382
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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