A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066124



Internal ID18808655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099606..46494937hg38UCSC Ensembl
Innerchr17:44176972..44572303hg19UCSC Ensembl
Innerchr17:41532785..41927619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38395332
hg19395332
hg18394835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3189n100
Supporting Variantsnssv3548520
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)nsv1066124
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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