A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006905



Internal ID18749436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75617003..75655530hg38UCSC Ensembl
Innerchr2:75844129..75882656hg19UCSC Ensembl
Innerchr2:75697637..75736164hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3838528
hg1938528
hg1838528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582003
Samples
Known GenesMRPL19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006905
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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