A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057570



Internal ID18800101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46600614hg38UCSC Ensembl
Innerchr17:44214888..44677980hg19UCSC Ensembl
Innerchr17:41570665..42033296hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38463093
hg19463093
hg18462632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3556565, nssv3556563, nssv3556564
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, 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)nsv1057570
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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