A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519249



Internal ID15099856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:9220577..9255833hg38UCSC Ensembl
Innerchr17:9123894..9159150hg19UCSC Ensembl
Innerchr17:9064619..9099875hg18UCSC Ensembl
Innerchr17:9064619..9099875hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3835257
hg1935257
hg1835257
hg1735257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696741
Samples
Known GenesNTN1, STX8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519249
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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