A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019456



Internal ID18761991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7528213hg38UCSC Ensembl
Innerchr8:7297328..7385735hg19UCSC Ensembl
Innerchr8:7284738..7373145hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3888408
hg1988408
hg1888408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6942n100
Supporting Variantsnssv3680245
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019456
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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