A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538625



Internal ID15157112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141482234..141513076hg38UCSC Ensembl
Innerchr5:140861801..140892643hg19UCSC Ensembl
Innerchr5:140841985..140872827hg18UCSC Ensembl
Innerchr5:140841985..140872827hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3830843
hg1930843
hg1830843
hg1730843
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462470
Supporting Variants
Samples1780862419_A
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5
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)nssv538625
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