A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3743095



Internal ID18694690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127929635..128161666hg38UCSC Ensembl
Innerchr4:128850790..129082821hg19UCSC Ensembl
Innerchr4:129070240..129302271hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38232032
hg19232032
hg18232032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018952
Supporting Variants
Samples
Known GenesC4orf29, LARP1B, MFSD8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3743095
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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