A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055491



Internal ID18798022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46286792..46710816hg38UCSC Ensembl
Innerchr17:44364158..44788182hg19UCSC Ensembl
Innerchr17:41719935..42143365hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38424025
hg19424025
hg18423431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3251n100
Supporting Variantsnssv3565907
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055491
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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