A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999749



Internal ID18812599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40768481..40820050hg38UCSC Ensembl
Innerchr4:40770498..40822067hg19UCSC Ensembl
Innerchr4:40465255..40516824hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3851570
hg1951570
hg1851570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625045
Samples
Known GenesAPBB2, NSUN7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999749
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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