A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061230



Internal ID18803761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46427863hg38UCSC Ensembl
Innerchr17:44214888..44505229hg19UCSC Ensembl
Innerchr17:41570665..41860664hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38290342
hg19290342
hg18290000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3189n100
Supporting Variantsnssv3556541, nssv3556540, nssv3724014
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)nsv1061230
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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