A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005149



Internal ID19094366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127084354..127122530hg38UCSC Ensembl
Innerchr2:127841930..127880106hg19UCSC Ensembl
Innerchr2:127558400..127596576hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3838177
hg1938177
hg1838177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580748
Samples
Known GenesBIN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005149
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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