A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548697



Internal ID16336106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194802203..194863360hg38UCSC Ensembl
Innerchr1:194771333..194832490hg19UCSC Ensembl
Innerchr1:193037956..193099113hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3861158
hg1961158
hg1861158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv726n54
Supporting Variantsnssv733898, nssv1173985
Samples1780862176_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548697
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer