A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031792



Internal ID19121014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141167591..141196668hg38UCSC Ensembl
Innerchr5:140547172..140576241hg19UCSC Ensembl
Innerchr5:140527356..140556425hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3829078
hg1929070
hg1829070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648146
Samples
Known GenesPCDHB10, PCDHB16, PCDHB7, PCDHB8, PCDHB9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031792
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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