A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021671



Internal ID18764205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7780682hg38UCSC Ensembl
Innerchr8:7250368..7638204hg19UCSC Ensembl
Innerchr8:7237778..7675614hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38387837
hg19387837
hg18437837
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3755044, nssv3755045, nssv3679023
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021671
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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