A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064490



Internal ID18807021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38539148..38587934hg38UCSC Ensembl
Innerchr19:39029788..39078574hg19UCSC Ensembl
Innerchr19:43721628..43770414hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3848787
hg1948787
hg1848787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3526n100
Supporting Variantsnssv3568200
Samples
Known GenesMAP4K1, RYR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064490
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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