A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517794



Internal ID15098401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6895855..7105125hg38UCSC Ensembl
Innerchr19:6895866..7105136hg19UCSC Ensembl
Innerchr19:6846866..7056136hg18UCSC Ensembl
Innerchr19:6846866..7056136hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38209271
hg19209271
hg18209271
hg17209271
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690326, nssv653282, nssv685247, nssv698763, nssv682554
Samples
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517794
Frequency
Sample Size2026
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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