A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462488



Internal ID15175867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150477897..150576147hg38UCSC Ensembl
Innerchr5:149857460..149955709hg19UCSC Ensembl
Innerchr5:149837653..149935902hg18UCSC Ensembl
Innerchr5:149837653..149935902hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3898251
hg1998250
hg1898250
hg1798250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538641
Samples1780862226_A
Known GenesLOC102546298, NDST1
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)nsv462488
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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