A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998958



Internal ID18811808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:42404571..42525872hg38UCSC Ensembl
Innerchr4:42406588..42527889hg19UCSC Ensembl
Innerchr4:42101345..42222646hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38121302
hg19121302
hg18121302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625048
Samples
Known GenesATP8A1, MIR548M
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998958
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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