A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549389



Internal ID15990112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234609045..234611066hg38UCSC Ensembl
Innerchr1:234744791..234746812hg19UCSC Ensembl
Innerchr1:232811414..232813435hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382022
hg192022
hg182022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv860n54
Supporting Variantsnssv738178
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549389
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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