A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003307



Internal ID18745839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161419254..161464398hg38UCSC Ensembl
Innerchr2:162275765..162320909hg19UCSC Ensembl
Innerchr2:161984011..162029155hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3845145
hg1945145
hg1845145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582993
Samples
Known GenesTBR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003307
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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