A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580233



Internal ID18531828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111891895..111976438hg38UCSC Ensembl
Innerchr2:112649472..112734015hg19UCSC Ensembl
Innerchr2:112365943..112450486hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3884544
hg1984544
hg1884544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998028
Supporting Variants
Samples
Known GenesMERTK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580233
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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