A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521247



Internal ID15101854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:9227001..9242651hg38UCSC Ensembl
Innerchr17:9130318..9145968hg19UCSC Ensembl
Innerchr17:9071043..9086693hg18UCSC Ensembl
Innerchr17:9071043..9086693hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3815651
hg1915651
hg1815651
hg1715651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688335, nssv697413, nssv689704
Samples
Known GenesNTN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521247
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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