A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006201



Internal ID18748732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216424084..216523434hg38UCSC Ensembl
Innerchr2:217288807..217388157hg19UCSC Ensembl
Innerchr2:216997052..217096402hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3899351
hg1999351
hg1899351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586809
Samples
Known GenesRPL37A, SMARCAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006201
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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