A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549375



Internal ID15990098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234574523..234608504hg38UCSC Ensembl
Innerchr1:234710269..234744250hg19UCSC Ensembl
Innerchr1:232776892..232810873hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3833982
hg1933982
hg1833982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174057
Samples1780862416_A
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549375
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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