A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461636



Internal ID15521701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:125619150..125672149hg38UCSC Ensembl
Innerchr4:126540305..126593304hg19UCSC Ensembl
Innerchr4:126759755..126812754hg18UCSC Ensembl
Innerchr4:126897910..126950909hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3853000
hg1953000
hg1853000
hg1753000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538006
SamplesNINDS_2
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)nsv461636
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