A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517223



Internal ID15444516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81753721..81755095hg38UCSC Ensembl
Innerchr5:81049540..81050914hg19UCSC Ensembl
Innerchr5:81085296..81086670hg18UCSC Ensembl
Innerchr5:81085296..81086670hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381375
hg191375
hg181375
hg171375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654061, nssv663199, nssv687802, nssv664127
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517223
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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