A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004843



Internal ID18747374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134445896..134461968hg38UCSC Ensembl
Innerchr2:135203467..135219539hg19UCSC Ensembl
Innerchr2:134919937..134936009hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3816073
hg1916073
hg1816073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729240
Samples
Known GenesMGAT5, TMEM163
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004843
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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