A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056273



Internal ID18798804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46666626hg38UCSC Ensembl
Innerchr17:44208144..44743992hg19UCSC Ensembl
Innerchr17:41563921..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38535849
hg19535849
hg18535256
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3720968, nssv3549942, nssv3720969
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)nsv1056273
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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