A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538410



Internal ID15161895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52462970..53037590hg38UCSC Ensembl
Innerchr5:51758804..52333420hg19UCSC Ensembl
Innerchr5:51794561..52369177hg18UCSC Ensembl
Innerchr5:51794561..52369177hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38574621
hg19574617
hg18574617
hg17574617
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462187
Supporting Variants
SamplesHGDP00865
Known GenesITGA1, ITGA2, PELO
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)nssv538410
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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