A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526108



Internal ID15453401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227149358..227154069hg38UCSC Ensembl
Innerchr2:228014074..228018785hg19UCSC Ensembl
Innerchr2:227722318..227727029hg18UCSC Ensembl
Innerchr2:227839579..227844290hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384712
hg194712
hg184712
hg174712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702356
Samples
Known GenesCOL4A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526108
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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