A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001588



Internal ID18744119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209735531..209764898hg38UCSC Ensembl
Innerchr1:209908876..209938243hg19UCSC Ensembl
Innerchr1:207975499..208004866hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3829368
hg1929368
hg1829368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500921
Samples
Known GenesTRAF3IP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001588
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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