A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055600



Internal ID19144819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20389766..20530544hg38UCSC Ensembl
Innerchr17:20293079..20433857hg19UCSC Ensembl
Innerchr17:20233671..20374449hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38140779
hg19140779
hg18140779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560911
Samples
Known GenesCCDC144CP, 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)nsv1055600
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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