A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549217



Internal ID16336626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:217750754..217819402hg38UCSC Ensembl
Innerchr1:217924096..217992744hg19UCSC Ensembl
Innerchr1:215990719..216059367hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3868649
hg1968649
hg1868649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736990
Samples
Known GenesSPATA17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549217
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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