A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017949



Internal ID18760482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7969833hg38UCSC Ensembl
Innerchr8:7250368..7827355hg19UCSC Ensembl
Innerchr8:7237778..7864765hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38576988
hg19576988
hg18626988
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679505, nssv3679515, nssv3679511, nssv3679512, nssv3679507, nssv3679510, nssv3679513, nssv3679506, nssv3679508, nssv3755216, nssv3679516, nssv3679514, nssv3679509
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017949
Frequency
Sample Size29084
Observed Gain9
Observed Loss4
Observed Complex0
Frequencyn/a


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