A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022148



Internal ID18764682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7396757..7598490hg38UCSC Ensembl
Innerchr8:7254279..7456012hg19UCSC Ensembl
Innerchr8:7241689..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38201734
hg19201734
hg18201734
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6934n100
Supporting Variantsnssv3679614, nssv3679613, nssv3679615, nssv3679617, nssv3679616, nssv3679612
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1022148
Frequency
Sample Size29084
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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