A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549546



Internal ID15990269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246982388..247041754hg38UCSC Ensembl
Innerchr1:247145690..247205056hg19UCSC Ensembl
Innerchr1:245212313..245271679hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859367
hg1959367
hg1859367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739556
Samples
Known GenesZNF670, ZNF670-ZNF695, ZNF695
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549546
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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