A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996218



Internal ID15581719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170411926..170573077hg38UCSC Ensembl
Innerchr2:171268436..171429587hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38161152
hg19161152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv483086
Supporting Variants
Samples
Known GenesMYO3B
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2996218
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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