A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025134



Internal ID18767666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7952372hg38UCSC Ensembl
Innerchr8:7752036..7809894hg19UCSC Ensembl
Innerchr8:7789446..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3857859
hg1957859
hg1857859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6977n100
Supporting Variantsnssv3681136, nssv3753774, nssv3753780, nssv3681139, nssv3681146, nssv3681137, nssv3681135, nssv3681154, nssv3681128, nssv3681133, nssv3681140, nssv3753777, nssv3681134, nssv3681130, nssv3681147, nssv3753778, nssv3753776, nssv3681152, nssv3681153, nssv3681155, nssv3681129, nssv3681141, nssv3753781, nssv3681144, nssv3753775, nssv3681131, nssv3681151, nssv3753783, nssv3681138, nssv3681142, nssv3753779, nssv3681149, nssv3681150, nssv3753782, nssv3681143, nssv3681132, nssv3681145, nssv3681148
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)nsv1025134
Frequency
Sample Size29084
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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