A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020617



Internal ID19109836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39441317..39511377hg38UCSC Ensembl
Innerchr8:39298836..39368896hg19UCSC Ensembl
Innerchr8:39417993..39488053hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3870061
hg1970061
hg1870061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7178n100
Supporting Variantsnssv3685997, nssv3757165, nssv3757202, nssv3757184, nssv3757171, nssv3686000, nssv3685998, nssv3757198, nssv3757187, nssv3757179, nssv3757197, nssv3757170, nssv3757185, nssv3757174, nssv3757183, nssv3757168, nssv3757200, nssv3685999, nssv3757181, nssv3685994, nssv3757178, nssv3757199, nssv3757189, nssv3757166, nssv3757194, nssv3685996, nssv3757191, nssv3757182, nssv3757173, nssv3757177, nssv3757176, nssv3757188, nssv3757203, nssv3757186, nssv3757180, nssv3686001, nssv3757175, nssv3757167, nssv3757195, nssv3757196, nssv3757190, nssv3685995, nssv3757193, nssv3757172, nssv3757169, nssv3757192, nssv3757201
Samples
Known GenesADAM3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020617
Frequency
Sample Size11257
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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