A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055512



Internal ID18798043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46331284..46660244hg38UCSC Ensembl
Innerchr17:44408650..44737610hg19UCSC Ensembl
Innerchr17:41764411..42092926hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38328961
hg19328961
hg18328516
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3567120, nssv3567121, nssv3567119
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)nsv1055512
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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