A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017475



Internal ID18760009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180945156..181006264hg38UCSC Ensembl
Innerchr5:180372156..180433264hg19UCSC Ensembl
Innerchr5:180304762..180365870hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3861109
hg1961109
hg1861109
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5853n100
Supporting Variantsnssv3650188, nssv3649437, nssv3649441, nssv3650189, nssv3650197, nssv3650193, nssv3650192, nssv3650205, nssv3649440, nssv3649423, nssv3649436, nssv3649430, nssv3649443, nssv3649435, nssv3649429, nssv3649444, nssv3650203, nssv3649445, nssv3650204, nssv3649432, nssv3649439, nssv3650201, nssv3650191, nssv3650194, nssv3649431, nssv3649422, nssv3650199, nssv3649438, nssv3650195, nssv3649428, nssv3649447, nssv3650202, nssv3649446, nssv3649434, nssv3650190, nssv3650187, nssv3650196, nssv3649424, nssv3650200, nssv3649426, nssv3746710, nssv3649442, nssv3650198, nssv3649433, nssv3649425, nssv3650186, nssv3649427
Samples
Known GenesBTNL3, BTNL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017475
Frequency
Sample Size29084
Observed Gain46
Observed Loss1
Observed Complex0
Frequencyn/a


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