A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574701



Internal ID16015424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32486209..32487461hg38UCSC Ensembl
Innerchr17:30813227..30814479hg19UCSC Ensembl
Innerchr17:27837340..27838592hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381253
hg191253
hg181253
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5525n54
Supporting Variantsnssv869619, nssv869617, nssv869618, nssv869616
Samples
Known GenesCDK5R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574701
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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