A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026449



Internal ID19115667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39512943hg38UCSC Ensembl
Innerchr8:39235591..39370462hg19UCSC Ensembl
Innerchr8:39354748..39489619hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38134872
hg19134872
hg18134872
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3684610, nssv3684611, nssv3757900, nssv3684605, nssv3757901, nssv3684604, nssv3684608, nssv3683479, nssv3757899, nssv3684594, nssv3684593, nssv3684595, nssv3684597, nssv3683480, nssv3684603, nssv3684609, nssv3684592, nssv3684599, nssv3683481, nssv3684602, nssv3683483, nssv3684607, nssv3684596, nssv3684600, nssv3684606, nssv3684601, nssv3684598, nssv3683482, nssv3684591
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)nsv1026449
Frequency
Sample Size11257
Observed Gain28
Observed Loss1
Observed Complex0
Frequencyn/a


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