A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170005



Internal ID21314066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125705628..125910985hg38UCSC Ensembl
Outerchr3:125688845..125930560hg38UCSC Ensembl
Innerchr3:125424472..125629828hg19UCSC Ensembl
Outerchr3:125407689..125649403hg19UCSC Ensembl
Innerchr3:126907162..127112518hg18UCSC Ensembl
Outerchr3:126890379..127132093hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38241716
hg19241715
hg18241715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14247964, nssv14248410
SamplesMLY_1, NGO_34
Known GenesALG1L, FAM86JP, MIR548I1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170005
Frequency
Sample Size93
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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