A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578464



Internal ID16365873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6895855..7000390hg38UCSC Ensembl
Innerchr19:6895866..7000401hg19UCSC Ensembl
Innerchr19:6846866..6951401hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38104536
hg19104536
hg18104536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6236n54
Supporting Variantsnssv893188, nssv1150026, nssv893187, nssv893186
SamplesNINDS_66
Known GenesEMR1, EMR4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578464
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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