A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3607131



Internal ID18905412
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 StatusS
Merged Variantsnsv997826
Supporting Variants
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)nssv3607131
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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