A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462494



Internal ID15175873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89081456..89123873hg38UCSC Ensembl
Innerchr1:89547139..89589556hg19UCSC Ensembl
Innerchr1:89319727..89362144hg18UCSC Ensembl
Innerchr1:89259160..89301577hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3842418
hg1942418
hg1842418
hg1742418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538647
SamplesNINDS_145
Known GenesGBP2
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)nsv462494
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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