A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581588



Internal ID18533183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44278899..44344334hg38UCSC Ensembl
Innerchr2:44506038..44571473hg19UCSC Ensembl
Innerchr2:44359542..44424977hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3865436
hg1965436
hg1865436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011655
Supporting Variants
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581588
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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