A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997826



Internal ID19157363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130188415..130248532hg38UCSC Ensembl
Innerchr3:129907258..129967375hg19UCSC Ensembl
Innerchr3:131389948..131450065hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3860118
hg1960118
hg1860118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3607131
Samples
Known GenesCOL6A4P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997826
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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