A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538556



Internal ID15504268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109712432..109797767hg38UCSC Ensembl
Innerchr5:109048133..109133468hg19UCSC Ensembl
Innerchr5:109076032..109161367hg18UCSC Ensembl
Innerchr5:109076032..109161367hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3885336
hg1985336
hg1885336
hg1785336
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462380
Supporting Variants
Samples1782681080_A
Known GenesMAN2A1, MIR548C, MIR548Z
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)nssv538556
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