A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021549



Internal ID19110767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7888834hg38UCSC Ensembl
Innerchr8:7250368..7746356hg19UCSC Ensembl
Innerchr8:7237778..7783766hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38495989
hg19495989
hg18545989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3755096, nssv3755094, nssv3679142, nssv3755099, nssv3679164, nssv3679156, nssv3679147, nssv3679148, nssv3679165, nssv3755097, nssv3755101, nssv3679157, nssv3679153, nssv3755100, nssv3755092, nssv3679161, nssv3755098, nssv3679143, nssv3679144, nssv3679151, nssv3679141, nssv3679149, nssv3679160, nssv3679154, nssv3679140, nssv3679163, nssv3679150, nssv3679146, nssv3755093, nssv3679152, nssv3755102, nssv3679158, nssv3755095, nssv3679155, nssv3679145, nssv3679162, nssv3679159
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021549
Frequency
Sample Size11257
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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