A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527997



Internal ID15108604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88827008..88838392hg38UCSC Ensembl
Innerchr16:88893416..88904800hg19UCSC Ensembl
Innerchr16:87420917..87432301hg18UCSC Ensembl
Innerchr16:87420917..87432301hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3811385
hg1911385
hg1811385
hg1711385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704522
Samples
Known GenesGALNS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527997
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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