A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594205



Internal ID16034928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56907276..56908898hg38UCSC Ensembl
Innerchr4:57773442..57775064hg19UCSC Ensembl
Innerchr4:57468199..57469821hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381623
hg191623
hg181623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998041, nssv998040
Samples
Known GenesREST
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594205
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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