A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020505



Internal ID19109724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12423600hg38UCSC Ensembl
Innerchr8:12232269..12281109hg19UCSC Ensembl
Innerchr8:12276640..12325480hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3848841
hg1948841
hg1848841
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7046n100
Supporting Variantsnssv3682465, nssv3754486, nssv3682460, nssv3682461, nssv3754487, nssv3754485, nssv3682470, nssv3682469, nssv3682458, nssv3682463, nssv3754484, nssv3682468, nssv3754482, nssv3682459, nssv3682466, nssv3682464, nssv3754483, nssv3682462, nssv3682467
Samples
Known GenesDEFB109P1, FAM66A, FAM90A25P, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020505
Frequency
Sample Size11257
Observed Gain12
Observed Loss7
Observed Complex0
Frequencyn/a


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