A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006657



Internal ID18749188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169863723..170244999hg38UCSC Ensembl
Innerchr2:170720233..171101509hg19UCSC Ensembl
Innerchr2:170428479..170809755hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38381277
hg19381277
hg18381277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583034
Samples
Known GenesMYO3B, UBR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006657
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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