A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998335



Internal ID18811185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86948844..87183262hg38UCSC Ensembl
Innerchr4:87869996..88104414hg19UCSC Ensembl
Innerchr4:88089020..88323438hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38234419
hg19234419
hg18234419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5335n100
Supporting Variantsnssv3742878
Samples
Known GenesAFF1, KLHL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998335
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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