A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546477



Internal ID16333886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71614215..71741116hg38UCSC Ensembl
Innerchr1:72079898..72206799hg19UCSC Ensembl
Innerchr1:71852486..71979387hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38126902
hg19126902
hg18126902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309n54
Supporting Variantsnssv1173018
SamplesNINDS_130
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546477
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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