A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064688



Internal ID18807219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38758419..38800886hg38UCSC Ensembl
Innerchr19:39249059..39291526hg19UCSC Ensembl
Innerchr19:43940899..43983366hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3842468
hg1942468
hg1842468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3527n100
Supporting Variantsnssv3568201
Samples
Known GenesLGALS7, LGALS7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064688
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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