A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066600



Internal ID18809131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46645464hg38UCSC Ensembl
Innerchr17:44208674..44722830hg19UCSC Ensembl
Innerchr17:41564451..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38514157
hg19514157
hg18513696
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3721078, nssv3721077, nssv3721076, nssv3550013
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)nsv1066600
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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