A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025950



Internal ID18768482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7889600..8008628hg38UCSC Ensembl
Innerchr8:7747122..7866150hg19UCSC Ensembl
Innerchr8:7784532..7903560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38119029
hg19119029
hg18119029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6978n100
Supporting Variantsnssv3681021
Samples
Known GenesDEFB109P1B, DEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025950
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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