A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010909



Internal ID18753442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64985044..65027965hg38UCSC Ensembl
Innerchr2:65212178..65255099hg19UCSC Ensembl
Innerchr2:65065682..65108603hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3842922
hg1942922
hg1842922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577273
Samples
Known GenesSLC1A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010909
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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