A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057389



Internal ID18799920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20255030..20353185hg38UCSC Ensembl
Innerchr17:20158343..20256498hg19UCSC Ensembl
Innerchr17:20098935..20197090hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3898156
hg1998156
hg1898156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560908
Samples
Known GenesCCDC144CP, SPECC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057389
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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