A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546797



Internal ID15987520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89081456..89123873hg38UCSC Ensembl
Innerchr1:89547139..89589556hg19UCSC Ensembl
Innerchr1:89319727..89362144hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3842418
hg1942418
hg1842418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173059
SamplesNINDS_145
Known GenesGBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546797
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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