A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011457



Internal ID18753991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125287676..126146923hg38UCSC Ensembl
Innerchr3:125006520..125865766hg19UCSC Ensembl
Innerchr3:126489210..127348456hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38859248
hg19859247
hg18859247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3735289
Samples
Known GenesALDH1L1, ALDH1L1-AS1, ALG1L, FAM86JP, MIR548I1, OSBPL11, ROPN1B, SLC41A3, SNX4, ZNF148
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011457
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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