A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022443



Internal ID18764977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7540695..7941317hg38UCSC Ensembl
Innerchr8:7398217..7798839hg19UCSC Ensembl
Innerchr8:7385627..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38400623
hg19400623
hg18450623
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3680746, nssv3753689, nssv3680745, nssv3680747, nssv3680744
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022443
Frequency
Sample Size29084
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer