A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594706



Internal ID16035429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:78775962..78776515hg38UCSC Ensembl
Innerchr4:79697116..79697669hg19UCSC Ensembl
Innerchr4:79916140..79916693hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38554
hg19554
hg18554
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002384, nssv1002383
Samples
Known GenesBMP2K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594706
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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