A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056215



Internal ID18798746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46596297hg38UCSC Ensembl
Innerchr17:44344847..44673663hg19UCSC Ensembl
Innerchr17:41700624..42028979hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38328817
hg19328817
hg18328356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3248n100
Supporting Variantsnssv3564252, nssv3564249, nssv3564251, nssv3564248, nssv3564250
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)nsv1056215
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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