A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057499



Internal ID18800030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46284631..46640527hg38UCSC Ensembl
Innerchr17:44361997..44717893hg19UCSC Ensembl
Innerchr17:41717774..42073209hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38355897
hg19355897
hg18355436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3251n100
Supporting Variantsnssv3565796
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)nsv1057499
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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