A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021742



Internal ID19110960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39475602hg38UCSC Ensembl
Innerchr8:39235591..39333121hg19UCSC Ensembl
Innerchr8:39354748..39452278hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3897531
hg1997531
hg1897531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7171n100
Supporting Variantsnssv3685194, nssv3685211, nssv3685209, nssv3685191, nssv3685199, nssv3760655, nssv3685192, nssv3760656, nssv3760652, nssv3685201, nssv3760658, nssv3760653, nssv3760654, nssv3685207, nssv3760657, nssv3685195, nssv3685212, nssv3685210, nssv3685203, nssv3685202, nssv3685204, nssv3685208, nssv3685200, nssv3685205, nssv3685206, nssv3685198, nssv3685193, nssv3685197, nssv3685196
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)nsv1021742
Frequency
Sample Size11257
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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