A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059550



Internal ID19148769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46494937hg38UCSC Ensembl
Innerchr17:44344847..44572303hg19UCSC Ensembl
Innerchr17:41700624..41927619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38227457
hg19227457
hg18226996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3247n100
Supporting Variantsnssv3564239, nssv3564241, nssv3725396, nssv3564238, nssv3564240
Samples
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059550
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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