A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674640



Internal ID15411292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129744694..129776411hg38UCSC Ensembl
Innerchr3:129463537..129495254hg19UCSC Ensembl
Innerchr3:130946227..130977944hg18UCSC Ensembl
Innerchr3:130946235..130977952hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3831718
hg1931718
hg1831718
hg1731718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516538
Supporting Variants
Samples
Known GenesTMCC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674640
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer