A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695523



Internal ID15085489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45847931..45849423hg38UCSC Ensembl
Innerchr17:43925297..43926789hg19UCSC Ensembl
Innerchr17:41281077..41282569hg18UCSC Ensembl
Innerchr17:41281077..41282569hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381493
hg191493
hg181493
hg171493
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518110
Supporting Variants
Samples
Known GenesMAPT-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695523
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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