A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549594



Internal ID16337003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247331591..247332391hg38UCSC Ensembl
Innerchr1:247494893..247495693hg19UCSC Ensembl
Innerchr1:245561516..245562316hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38801
hg19801
hg18801
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv897n54
Supporting Variantsnssv739668, nssv739670, nssv739669, nssv739667
Samples
Known GenesZNF496
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549594
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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