A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578504



Internal ID16365913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7231633..7269310hg38UCSC Ensembl
Innerchr19:7231644..7269321hg19UCSC Ensembl
Innerchr19:7182644..7220321hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3837678
hg1937678
hg1837678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6246n54
Supporting Variantsnssv1150036
SamplesHGDP01240
Known GenesINSR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578504
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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