A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537626



Internal ID15509517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7524012..7542883hg38UCSC Ensembl
Innerchr4:7525739..7544610hg19UCSC Ensembl
Innerchr4:7576639..7595510hg18UCSC Ensembl
Innerchr4:7643810..7662681hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3818872
hg1918872
hg1818872
hg1718872
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461208
Supporting Variants
SamplesHGDP01027
Known GenesSORCS2
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)nssv537626
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