A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027644



Internal ID18770176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7889600..7941317hg38UCSC Ensembl
Innerchr8:7747122..7798839hg19UCSC Ensembl
Innerchr8:7784532..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3851718
hg1951718
hg1851718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6975n100
Supporting Variantsnssv3681016, nssv3681015, nssv3681018, nssv3753721, nssv3753722, nssv3681017
Samples
Known GenesDEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027644
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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