A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549433



Internal ID16336842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238946743..238993070hg38UCSC Ensembl
Innerchr1:239110043..239156370hg19UCSC Ensembl
Innerchr1:237176666..237222993hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3846328
hg1946328
hg1846328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174074
Samples1780862432_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549433
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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