A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1006481



Internal ID16300437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130041108..130079891hg38UCSC Ensembl
Innerchr4:130962263..131001046hg19UCSC Ensembl
Innerchr4:131181713..131220496hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3838784
hg1938784
hg1838784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595412
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1006481
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