A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061923



Internal ID18804454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46286792..46480529hg38UCSC Ensembl
Innerchr17:44364158..44557895hg19UCSC Ensembl
Innerchr17:41719935..41913211hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38193738
hg19193738
hg18193277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3252n100
Supporting Variantsnssv3565876, nssv3565873, nssv3565875, nssv3565874
Samples
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061923
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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