A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538606



Internal ID15163451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126586076..126753498hg38UCSC Ensembl
Innerchr5:125921768..126089190hg19UCSC Ensembl
Innerchr5:125949667..126117089hg18UCSC Ensembl
Innerchr5:125949667..126117089hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38167423
hg19167423
hg18167423
hg17167423
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462442
Supporting Variants
SamplesHGDP01194
Known GenesALDH7A1, C5orf48, PHAX
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)nssv538606
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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