A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517116



Internal ID15444409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231182932..231187593hg38UCSC Ensembl
Innerchr1:231318678..231323339hg19UCSC Ensembl
Innerchr1:229385301..229389962hg18UCSC Ensembl
Innerchr1:227625413..227630074hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg384662
hg194662
hg184662
hg174662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672883, nssv674401, nssv657975, nssv652647, nssv653381, nssv665817, nssv689495, nssv673075, nssv689029, nssv656768, nssv659411, nssv659733, nssv666987, nssv684344, nssv664842, nssv653811, nssv663936, nssv663273, nssv672611, nssv652884, nssv683876
Samples
Known GenesLOC149373, TRIM67
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517116
Frequency
Sample Size2026
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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