A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062949



Internal ID18805480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47344392..47388294hg38UCSC Ensembl
Innerchr19:47847649..47891551hg19UCSC Ensembl
Innerchr19:52539489..52583385hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3843903
hg1943903
hg1843897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724903
Samples
Known GenesDHX34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062949
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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