A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462199



Internal ID15175578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60833534..61033797hg38UCSC Ensembl
Innerchr5:60129361..60329624hg19UCSC Ensembl
Innerchr5:60165118..60365381hg18UCSC Ensembl
Innerchr5:60165118..60365381hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38200264
hg19200264
hg18200264
hg17200264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538419
SamplesHGDP00428
Known GenesELOVL7, ERCC8, NDUFAF2
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)nsv462199
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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