A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682554



Internal ID15072520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6895855..7000390hg38UCSC Ensembl
Innerchr19:6895866..7000401hg19UCSC Ensembl
Innerchr19:6846866..6951401hg18UCSC Ensembl
Innerchr19:6846866..6951401hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38104536
hg19104536
hg18104536
hg17104536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517794
Supporting Variants
Samples
Known GenesEMR1, EMR4P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682554
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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