A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3594152



Internal ID18892433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:69272040..69291374hg38UCSC Ensembl
Innerchr3:69321191..69340525hg19UCSC Ensembl
Innerchr3:69403881..69423215hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3819335
hg1919335
hg1819335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012483
Supporting Variants
Samples
Known GenesFRMD4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3594152
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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