A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549547



Internal ID15990270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247069854..247118467hg38UCSC Ensembl
Innerchr1:247233156..247281769hg19UCSC Ensembl
Innerchr1:245299779..245348392hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848614
hg1948614
hg1848614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739557
Samples
Known GenesC1orf229, ZNF669, ZNF670, ZNF670-ZNF695
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549547
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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