A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678329



Internal ID15414981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191349455..191352195hg38UCSC Ensembl
Innerchr3:191067244..191069984hg19UCSC Ensembl
Innerchr3:192549938..192552678hg18UCSC Ensembl
Innerchr3:192549946..192552686hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382741
hg192741
hg182741
hg172741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516440
Supporting Variants
Samples
Known GenesCCDC50
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678329
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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