A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056308



Internal ID18798839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46628597hg38UCSC Ensembl
Innerchr17:44208674..44705963hg19UCSC Ensembl
Innerchr17:41564451..42061279hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38497290
hg19497290
hg18496829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3721074, nssv3550011
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)nsv1056308
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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