A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464172



Internal ID15524237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9317805..9353587hg38UCSC Ensembl
Innerchr1:9377864..9413646hg19UCSC Ensembl
Innerchr1:9300451..9336233hg18UCSC Ensembl
Innerchr1:9312130..9347912hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3835783
hg1935783
hg1835783
hg1735783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540129
Samples1780854065_A
Known GenesSPSB1
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)nsv464172
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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