A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043547



Internal ID19132766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70167253..70198751hg38UCSC Ensembl
Innerchr13:70741385..70772883hg19UCSC Ensembl
Innerchr13:69639386..69670884hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3831499
hg1931499
hg1831499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1712n100
Supporting Variantsnssv3529330, nssv3529334, nssv3713229, nssv3713228, nssv3529344, nssv3529343, nssv3529331, nssv3529333, nssv3529346, nssv3529345, nssv3713230, nssv3529335, nssv3529338, nssv3529339, nssv3529329, nssv3529342, nssv3529332, nssv3529340, nssv3529336, nssv3529337, nssv3529341
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043547
Frequency
Sample Size11257
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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