A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462839



Internal ID15522904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9327385hg38UCSC Ensembl
Innerchr1:9318401..9387444hg19UCSC Ensembl
Innerchr1:9240988..9310031hg18UCSC Ensembl
Innerchr1:9252667..9321710hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3869044
hg1969044
hg1869044
hg1769044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3n27
Supporting Variantsnssv538922
Samples1780854392_A
Known GenesH6PD, SPSB1
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)nsv462839
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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