A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549000



Internal ID16336409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203036970..203078493hg38UCSC Ensembl
Innerchr1:203006098..203047621hg19UCSC Ensembl
Innerchr1:201272721..201314244hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3841524
hg1941524
hg1841524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174036
SamplesNINDS_200
Known GenesPPFIA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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