A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001305



Internal ID18743836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95495940..95593452hg38UCSC Ensembl
Innerchr2:96161688..96259200hg19UCSC Ensembl
Innerchr2:95525415..95622927hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3897513
hg1997513
hg1897513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4008n100
Supporting Variantsnssv3579543
Samples
Known GenesTRIM43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001305
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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