A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057038



Internal ID18799569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46270361..46645464hg38UCSC Ensembl
Innerchr17:44347727..44722830hg19UCSC Ensembl
Innerchr17:41703504..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38375104
hg19375104
hg18374643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3725472, nssv3564529, nssv3564531, nssv3725471, nssv3564530
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)nsv1057038
Frequency
Sample Size29084
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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