A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056164



Internal ID18798695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47851766..47967852hg38UCSC Ensembl
Innerchr19:48355023..48471109hg19UCSC Ensembl
Innerchr19:53046835..53162921hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38116087
hg19116087
hg18116087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573815
Samples
Known GenesSNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056164
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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