A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516892



Internal ID15444185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126181413..126182423hg38UCSC Ensembl
Innerchr5:125517106..125518116hg19UCSC Ensembl
Innerchr5:125545005..125546015hg18UCSC Ensembl
Innerchr5:125545005..125546015hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
hg171011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654734, nssv680071
Samples
Known GenesLOC102546228
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516892
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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