A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059804



Internal ID18802335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46270361..46640527hg38UCSC Ensembl
Innerchr17:44347727..44717893hg19UCSC Ensembl
Innerchr17:41703504..42073209hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38370167
hg19370167
hg18369706
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3564528, nssv3564527, nssv3725470
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)nsv1059804
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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