A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516758



Internal ID15097365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44904131..44911720hg38UCSC Ensembl
Innerchr17:42981499..42989088hg19UCSC Ensembl
Innerchr17:40337025..40344614hg18UCSC Ensembl
Innerchr17:40337025..40344614hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387590
hg197590
hg187590
hg177590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676741, nssv662144, nssv670649, nssv674975
Samples
Known GenesGFAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516758
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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