A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573804



Internal ID18525399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46758338..46865807hg38UCSC Ensembl
Innerchr19:47261595..47369064hg19UCSC Ensembl
Innerchr19:51953435..52060904hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38107470
hg19107470
hg18107470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062941
Supporting Variants
Samples
Known GenesAP2S1, FKRP, SLC1A5, SNAR-E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3573804
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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