A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023844



Internal ID18766377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12035719..12585534hg38UCSC Ensembl
Innerchr8:11893228..12443043hg19UCSC Ensembl
Innerchr8:11930637..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38549816
hg19549816
hg18556778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7015n100
Supporting Variantsnssv3681755, nssv3681754
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023844
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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