A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462489



Internal ID15175868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151048634..151059427hg38UCSC Ensembl
Innerchr5:150428195..150438988hg19UCSC Ensembl
Innerchr5:150408388..150419181hg18UCSC Ensembl
Innerchr5:150408388..150419181hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3810794
hg1910794
hg1810794
hg1710794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538642
Samples1780854097_A
Known GenesTNIP1
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)nsv462489
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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