A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578389



Internal ID16365798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2699587..2708339hg38UCSC Ensembl
Innerchr19:2699585..2708337hg19UCSC Ensembl
Innerchr19:2650585..2659337hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388753
hg198753
hg188753
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6219n54
Supporting Variantsnssv892088, nssv892086, nssv892089, nssv892087
Samples
Known GenesGNG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578389
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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