A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015622



Internal ID18758156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7969388hg38UCSC Ensembl
Innerchr8:7214599..7826910hg19UCSC Ensembl
Innerchr8:7202009..7864320hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38612312
hg19612312
hg18662312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678751, nssv3678749, nssv3678750
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015622
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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