A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011121



Internal ID19100338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217782399..217833600hg38UCSC Ensembl
Innerchr2:218647122..218698323hg19UCSC Ensembl
Innerchr2:218355367..218406568hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3851202
hg1951202
hg1851202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4175n100
Supporting Variantsnssv3586816
Samples
Known GenesTNS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011121
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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