A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020243



Internal ID18762779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7778314hg38UCSC Ensembl
Innerchr8:7214599..7635836hg19UCSC Ensembl
Innerchr8:7202009..7673246hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38421238
hg19421238
hg18471238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3678548, nssv3754152, nssv3678547, nssv3678546, nssv3678550, nssv3678549
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020243
Frequency
Sample Size29084
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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