A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3633878



Internal ID18585473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77821351..78069876hg38UCSC Ensembl
Innerchr4:78742505..78991030hg19UCSC Ensembl
Innerchr4:78961529..79210054hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38248526
hg19248526
hg18248526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010714
Supporting Variants
Samples
Known GenesFRAS1, MRPL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3633878
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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