A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002405



Internal ID18744937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176723959..177453575hg38UCSC Ensembl
Innerchr3:176441747..177171363hg19UCSC Ensembl
Innerchr3:177924441..178654057hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38729617
hg19729617
hg18729617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3614954
Samples
Known GenesLINC00501, LINC00578, TBL1XR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002405
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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