A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031372



Internal ID19120594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7941317hg38UCSC Ensembl
Innerchr8:7752036..7798839hg19UCSC Ensembl
Innerchr8:7789446..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3846804
hg1946804
hg1846804
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6979n100
Supporting Variantsnssv3681111, nssv3681115, nssv3681095, nssv3681120, nssv3681109, nssv3753770, nssv3681097, nssv3681093, nssv3681085, nssv3681127, nssv3681106, nssv3681119, nssv3681125, nssv3753772, nssv3681124, nssv3753773, nssv3681113, nssv3681088, nssv3681099, nssv3681086, nssv3681121, nssv3681096, nssv3681117, nssv3681098, nssv3681104, nssv3681116, nssv3681108, nssv3681122, nssv3681112, nssv3681114, nssv3681087, nssv3681092, nssv3681100, nssv3753771, nssv3681126, nssv3681105, nssv3681089, nssv3681123, nssv3681090, nssv3681110, nssv3681102, nssv3681103, nssv3681107, nssv3681101, nssv3681094, nssv3681118, nssv3681084, nssv3681091
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031372
Frequency
Sample Size11257
Observed Gain40
Observed Loss8
Observed Complex0
Frequencyn/a


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