A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062325



Internal ID18804856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46317036hg38UCSC Ensembl
Innerchr17:44165803..44394402hg19UCSC Ensembl
Innerchr17:41521621..41750177hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38228600
hg19228600
hg18228557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3184n100
Supporting Variantsnssv3720477, nssv3548325
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062325
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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