A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523090



Internal ID15450383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148279443..148353304hg38UCSC Ensembl
Innerchr2:149037012..149110873hg19UCSC Ensembl
Innerchr2:148753482..148827343hg18UCSC Ensembl
Innerchr2:148870744..148944605hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3873862
hg1973862
hg1873862
hg1773862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698782
Samples
Known GenesMBD5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523090
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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