A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521075



Internal ID15448368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18317456..18323767hg38UCSC Ensembl
Innerchr17:18220770..18227081hg19UCSC Ensembl
Innerchr17:18161495..18167806hg18UCSC Ensembl
Innerchr17:18161495..18167806hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386312
hg196312
hg186312
hg176312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697770
Samples
Known GenesSMCR8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521075
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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