A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003258



Internal ID18745789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215388731..215732211hg38UCSC Ensembl
Innerchr2:216253454..216596934hg19UCSC Ensembl
Innerchr2:215961699..216305179hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38343481
hg19343481
hg18343481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4173n100
Supporting Variantsnssv3585695
Samples
Known GenesFN1, LINC00607
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003258
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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