A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483012



Internal ID15235486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34865867..35052633hg38UCSC Ensembl
Innerchr14:35335073..35521839hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38186767
hg19186767
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996334, nssv2995931
Samples
Known GenesBAZ1A, FAM177A1, IGBP1P1, SRP54
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483012
Frequency
Sample Size39
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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