A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057393



Internal ID18799924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46124010..46383054hg38UCSC Ensembl
Innerchr17:44201376..44460420hg19UCSC Ensembl
Innerchr17:41557154..41815840hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38259045
hg19259045
hg18258687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3549849
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057393
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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