A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057663



Internal ID19146882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49209651..49287345hg38UCSC Ensembl
Innerchr19:49712908..49790602hg19UCSC Ensembl
Innerchr19:54404720..54482414hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3877695
hg1977695
hg1877695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3574984
Samples
Known GenesTRPM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057663
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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