A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019957



Internal ID18762492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477539..7542794hg38UCSC Ensembl
Innerchr8:7335061..7400316hg19UCSC Ensembl
Innerchr8:7322471..7387726hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3865256
hg1965256
hg1865256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6945n100
Supporting Variantsnssv3680487
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019957
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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