A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022372



Internal ID18764906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7888834..7919637hg38UCSC Ensembl
Innerchr8:7746356..7777159hg19UCSC Ensembl
Innerchr8:7783766..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3830804
hg1930804
hg1830804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6973n100
Supporting Variantsnssv3680989, nssv3680994, nssv3680993, nssv3680986, nssv3680985, nssv3680988, nssv3680980, nssv3680990, nssv3680983, nssv3680978, nssv3680976, nssv3680981, nssv3680982, nssv3680979, nssv3680992, nssv3680995, nssv3680987, nssv3680977, nssv3680991, nssv3680984, nssv3680996
Samples
Known GenesDEFB4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022372
Frequency
Sample Size29084
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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