A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537337



Internal ID15159417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123608828..124139902hg38UCSC Ensembl
Innerchr3:123327675..123858749hg19UCSC Ensembl
Innerchr3:124810365..125341439hg18UCSC Ensembl
Innerchr3:124810365..125341439hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38531075
hg19531075
hg18531075
hg17531075
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460837
Supporting Variants
SamplesHGDP00372
Known GenesCCDC14, KALRN, MIR5002, MYLK, MYLK-AS1, ROPN1
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)nssv537337
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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