A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027710



Internal ID19116929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39530768hg38UCSC Ensembl
Innerchr8:39235591..39388287hg19UCSC Ensembl
Innerchr8:39354748..39507444hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38152697
hg19152697
hg18152697
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3756625, nssv3686165, nssv3686151, nssv3686124, nssv3686144, nssv3686177, nssv3686131, nssv3686202, nssv3686133, nssv3686181, nssv3686164, nssv3686157, nssv3686103, nssv3686182, nssv3686128, nssv3686186, nssv3686156, nssv3686189, nssv3686188, nssv3686113, nssv3756620, nssv3686152, nssv3686187, nssv3686106, nssv3686178, nssv3686138, nssv3686196, nssv3686137, nssv3686191, nssv3686120, nssv3686192, nssv3686174, nssv3686155, nssv3686132, nssv3686134, nssv3686146, nssv3686125, nssv3686122, nssv3686200, nssv3686148, nssv3686195, nssv3686198, nssv3756626, nssv3756617, nssv3686145, nssv3756621, nssv3686175, nssv3686150, nssv3756624, nssv3686121, nssv3686170, nssv3756622, nssv3686127, nssv3686166, nssv3686130, nssv3686173, nssv3686163, nssv3686129, nssv3686114, nssv3686112, nssv3686162, nssv3686126, nssv3686159, nssv3686179, nssv3686153, nssv3686143, nssv3686140, nssv3686194, nssv3686147, nssv3686110, nssv3686158, nssv3686118, nssv3686105, nssv3756623, nssv3686119, nssv3686149, nssv3686193, nssv3686135, nssv3756615, nssv3756627, nssv3686183, nssv3686116, nssv3756616, nssv3686190, nssv3686160, nssv3686199, nssv3686161, nssv3686117, nssv3686172, nssv3686107, nssv3686169, nssv3756618, nssv3686136, nssv3686109, nssv3686108, nssv3686171, nssv3756628, nssv3686168, nssv3686123, nssv3686104, nssv3686176, nssv3686185, nssv3686141, nssv3686111, nssv3686180, nssv3686154, nssv3686139, nssv3686184, nssv3686167, nssv3686201, nssv3686142, nssv3686115, nssv3756619, nssv3686197
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)nsv1027710
Frequency
Sample Size11257
Observed Gain111
Observed Loss3
Observed Complex0
Frequencyn/a


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