A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998670



Internal ID18811520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3452060..3907808hg38UCSC Ensembl
Innerchr4:3453787..3909535hg19UCSC Ensembl
Innerchr4:3423585..3879333hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38455749
hg19455749
hg18455749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616116
Samples
Known GenesADRA2C, DOK7, LINC00955, LOC100133461, LRPAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998670
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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