A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511593



Internal ID15851018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18463976..18501865hg38UCSC Ensembl
Outerchr17:18419035..18542212hg38UCSC Ensembl
Innerchr17:18367290..18405179hg19UCSC Ensembl
Outerchr17:18322349..18445526hg19UCSC Ensembl
Innerchr17:18308015..18345904hg18UCSC Ensembl
Outerchr17:18263074..18386251hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38123178
hg19123178
hg18123178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626222
Samples1
Known GenesCCDC144B, FAM106A, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511593
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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