A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013916



Internal ID19103135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011844..130087197hg38UCSC Ensembl
Innerchr3:129730687..129806040hg19UCSC Ensembl
Innerchr3:131213377..131288730hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3875354
hg1975354
hg1875354
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3736432, nssv3603556, nssv3736431, nssv3736429, nssv3603554, nssv3603552, nssv3603555, nssv3736430, nssv3603553, nssv3603551, nssv3736433, nssv3736427, nssv3736428, nssv3736425, nssv3736424, nssv3736426, nssv3603550
Samples
Known GenesALG1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013916
Frequency
Sample Size11257
Observed Gain16
Observed Loss1
Observed Complex0
Frequencyn/a


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