A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058611



Internal ID18801142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46674922hg38UCSC Ensembl
Innerchr17:44165803..44752288hg19UCSC Ensembl
Innerchr17:41521621..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38586486
hg19586486
hg18585847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3548400, nssv3548390, nssv3548396, nssv3548398, nssv3548383, nssv3720506, nssv3720507, nssv3548402, nssv3720509, nssv3548388, nssv3548399, nssv3548407, nssv3720505, nssv3548397, nssv3548408, nssv3548387, nssv3548401, nssv3548405, nssv3548406, nssv3548391, nssv3720504, nssv3548385, nssv3548395, nssv3548392, nssv3548403, nssv3720508, nssv3548394, nssv3548393, nssv3548389, nssv3548386, nssv3548384, nssv3548404
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058611
Frequency
Sample Size29084
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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