A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017870



Internal ID18760403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39372652..39527663hg38UCSC Ensembl
Innerchr8:39230171..39385182hg19UCSC Ensembl
Innerchr8:39349328..39504339hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155012
hg19155012
hg18155012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3683541, nssv3683506, nssv3760515, nssv3683537, nssv3760511, nssv3683536, nssv3683540, nssv3683549, nssv3683502, nssv3683551, nssv3683512, nssv3683498, nssv3683547, nssv3683532, nssv3683513, nssv3683504, nssv3683539, nssv3683530, nssv3760516, nssv3683534, nssv3683526, nssv3683553, nssv3683517, nssv3683550, nssv3683548, nssv3683487, nssv3683488, nssv3760517, nssv3683494, nssv3683528, nssv3683520, nssv3683543, nssv3683501, nssv3683557, nssv3683505, nssv3683542, nssv3683555, nssv3683489, nssv3683515, nssv3683521, nssv3683516, nssv3683491, nssv3683546, nssv3683500, nssv3683523, nssv3683544, nssv3683545, nssv3683554, nssv3683519, nssv3683496, nssv3683514, nssv3683527, nssv3683518, nssv3683503, nssv3683522, nssv3683529, nssv3683490, nssv3683533, nssv3683492, nssv3683511, nssv3683507, nssv3683558, nssv3683538, nssv3683509, nssv3683510, nssv3760512, nssv3683493, nssv3760513, nssv3683524, nssv3683525, nssv3683495, nssv3760514, nssv3683556, nssv3683497, nssv3683535, nssv3683499, nssv3683508, nssv3683531, nssv3683552
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017870
Frequency
Sample Size29084
Observed Gain79
Observed Loss0
Observed Complex0
Frequencyn/a


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