A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574702



Internal ID16015425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32486209..32487513hg38UCSC Ensembl
Innerchr17:30813227..30814531hg19UCSC Ensembl
Innerchr17:27837340..27838644hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381305
hg191305
hg181305
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5525n54
Supporting Variantsnssv869622, nssv869620, nssv869621
Samples
Known GenesCDK5R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574702
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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