A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567116



Internal ID18518711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46331284..46645464hg38UCSC Ensembl
Innerchr17:44408650..44722830hg19UCSC Ensembl
Innerchr17:41764411..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38314181
hg19314181
hg18313736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066973
Supporting Variants
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)nssv3567116
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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