A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483103



Internal ID15582216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131523273..131697432hg38UCSC Ensembl
Innerchr2:132280846..132455005hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38174160
hg19174160
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996082, nssv2995982, nssv2996122, nssv2996178, nssv2996309
Samples
Known GenesCCDC74A, LINC01087, POTEKP, RNU6-81P
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483103
Frequency
Sample Size39
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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