A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031323



Internal ID19120545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39505415hg38UCSC Ensembl
Innerchr8:39235591..39362934hg19UCSC Ensembl
Innerchr8:39354748..39482091hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38127344
hg19127344
hg18127344
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3683224, nssv3683246, nssv3683232, nssv3683148, nssv3683171, nssv3683187, nssv3683151, nssv3683215, nssv3683158, nssv3683116, nssv3683127, nssv3683248, nssv3683166, nssv3686455, nssv3686442, nssv3683162, nssv3683220, nssv3683143, nssv3686453, nssv3683141, nssv3760672, nssv3683198, nssv3683197, nssv3683142, nssv3683240, nssv3683223, nssv3683172, nssv3683134, nssv3683222, nssv3683136, nssv3683186, nssv3683144, nssv3683163, nssv3686441, nssv3683260, nssv3683189, nssv3683147, nssv3683137, nssv3683214, nssv3683210, nssv3686444, nssv3683153, nssv3683190, nssv3683123, nssv3683219, nssv3683241, nssv3686450, nssv3683258, nssv3683225, nssv3683245, nssv3686436, nssv3683152, nssv3683212, nssv3683204, nssv3683178, nssv3686451, nssv3683209, nssv3683205, nssv3683174, nssv3683155, nssv3683244, nssv3683165, nssv3686440, nssv3683125, nssv3683169, nssv3686456, nssv3683129, nssv3686457, nssv3683164, nssv3683157, nssv3683228, nssv3683249, nssv3683115, nssv3683252, nssv3683229, nssv3683221, nssv3683195, nssv3686458, nssv3683257, nssv3683128, nssv3760671, nssv3683193, nssv3683182, nssv3683168, nssv3683131, nssv3686465, nssv3683118, nssv3683135, nssv3686462, nssv3683238, nssv3683236, nssv3683183, nssv3686463, nssv3683117, nssv3683154, nssv3683200, nssv3686445, nssv3683185, nssv3760673, nssv3686447, nssv3686438, nssv3683234, nssv3686460, nssv3683202, nssv3686448, nssv3683208, nssv3683213, nssv3683160, nssv3683196, nssv3683177, nssv3683146, nssv3683130, nssv3683242, nssv3683206, nssv3683253, nssv3683161, nssv3683156, nssv3686437, nssv3683226, nssv3683173, nssv3760675, nssv3683140, nssv3683237, nssv3683124, nssv3683239, nssv3686439, nssv3683207, nssv3683199, nssv3683122, nssv3683149, nssv3683170, nssv3683159, nssv3683250, nssv3683191, nssv3686454, nssv3683175, nssv3683139, nssv3760676, nssv3683218, nssv3683203, nssv3683247, nssv3683126, nssv3683119, nssv3686443, nssv3683231, nssv3686464, nssv3683180, nssv3683235, nssv3683176, nssv3683255, nssv3683233, nssv3683217, nssv3683145, nssv3686461, nssv3683179, nssv3683132, nssv3760678, nssv3683184, nssv3683167, nssv3683120, nssv3683192, nssv3683121, nssv3683230, nssv3686446, nssv3683254, nssv3683211, nssv3683150, nssv3683243, nssv3686452, nssv3683259, nssv3683181, nssv3683201, nssv3683133, nssv3683256, nssv3683251, nssv3760679, nssv3683216, nssv3760677, nssv3686459, nssv3683227, nssv3683194, nssv3683188, nssv3686449, nssv3760674, nssv3683138
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)nsv1031323
Frequency
Sample Size11257
Observed Gain149
Observed Loss36
Observed Complex0
Frequencyn/a


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