A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058200



Internal ID19147419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20466128..20695359hg38UCSC Ensembl
Innerchr17:20369441..20598672hg19UCSC Ensembl
Innerchr17:20310033..20539264hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38229232
hg19229232
hg18229232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3121n100
Supporting Variantsnssv3560913
Samples
Known GenesCDRT15L2, KRT16P3, LGALS9B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058200
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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