A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004220



Internal ID18746751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97806958..98199547hg38UCSC Ensembl
Innerchr2:98423421..98816010hg19UCSC Ensembl
Innerchr2:97789853..98182442hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38392590
hg19392590
hg18392590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4027n100
Supporting Variantsnssv3580043
Samples
Known GenesTMEM131, VWA3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004220
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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