A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061000



Internal ID18803531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46710816hg38UCSC Ensembl
Innerchr17:44394400..44788182hg19UCSC Ensembl
Innerchr17:41750175..42143365hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38393783
hg19393783
hg18393191
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3563390, nssv3563389, nssv3563388, nssv3563385, nssv3563384, nssv3563387, nssv3563386
Samples
Known GenesARL17A, ARL17B, 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)nsv1061000
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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