A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575714



Internal ID16016437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56216545..56440708hg38UCSC Ensembl
Innerchr17:54293906..54518069hg19UCSC Ensembl
Innerchr17:51648905..51873068hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38224164
hg19224164
hg18224164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv874246
Samples
Known GenesANKFN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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