A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3568344



Internal ID18519939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46331284..46710816hg38UCSC Ensembl
Innerchr17:44408650..44788182hg19UCSC Ensembl
Innerchr17:41764411..42143365hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38379533
hg19379533
hg18378955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062150
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)nssv3568344
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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