A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005158



Internal ID18747689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:139282894..139354169hg38UCSC Ensembl
Innerchr3:139001736..139073011hg19UCSC Ensembl
Innerchr3:140484426..140555701hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3871276
hg1971276
hg1871276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3608335
Samples
Known GenesMRPS22
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005158
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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