A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062723



Internal ID18805254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46194634..46494937hg38UCSC Ensembl
Innerchr17:44272000..44572303hg19UCSC Ensembl
Innerchr17:41627777..41927619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38300304
hg19300304
hg18299843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3240n100
Supporting Variantsnssv3557436
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)nsv1062723
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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