A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019662



Internal ID18762197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477539..7919637hg38UCSC Ensembl
Innerchr8:7335061..7777159hg19UCSC Ensembl
Innerchr8:7322471..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38442099
hg19442099
hg18492099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3680490, nssv3680492, nssv3680491
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1019662
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer