A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537986



Internal ID15501996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:108280880..108321649hg38UCSC Ensembl
Innerchr4:109202036..109242805hg19UCSC Ensembl
Innerchr4:109421485..109462254hg18UCSC Ensembl
Innerchr4:109559640..109600409hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3840770
hg1940770
hg1840770
hg1740770
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461612
Supporting Variants
Samples1780854065_A
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv537986
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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