A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025473



Internal ID19114691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39485418hg38UCSC Ensembl
Innerchr8:39235591..39342937hg19UCSC Ensembl
Innerchr8:39354748..39462094hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38107347
hg19107347
hg18107347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7171n100
Supporting Variantsnssv3685238, nssv3685251, nssv3685235, nssv3685223, nssv3760662, nssv3685241, nssv3685228, nssv3685214, nssv3685250, nssv3685231, nssv3685227, nssv3685236, nssv3685245, nssv3685225, nssv3685224, nssv3685218, nssv3760661, nssv3760660, nssv3685217, nssv3685221, nssv3685247, nssv3760663, nssv3685220, nssv3685239, nssv3685229, nssv3760669, nssv3685242, nssv3685249, nssv3685230, nssv3685233, nssv3760668, nssv3760666, nssv3760659, nssv3760664, nssv3760667, nssv3685237, nssv3685215, nssv3685232, nssv3685246, nssv3685240, nssv3685226, nssv3685234, nssv3685216, nssv3685248, nssv3685252, nssv3685219, nssv3685243, nssv3760665, nssv3685244, nssv3685222
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)nsv1025473
Frequency
Sample Size11257
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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