A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548405



Internal ID16335814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186683263..186773815hg38UCSC Ensembl
Innerchr1:186652395..186742947hg19UCSC Ensembl
Innerchr1:184919018..185009570hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3890553
hg1990553
hg1890553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173929
Samples1780862358_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548405
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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