A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525418



Internal ID15452711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205104496..205212883hg38UCSC Ensembl
Innerchr2:205969220..206077607hg19UCSC Ensembl
Innerchr2:205677465..205785852hg18UCSC Ensembl
Innerchr2:205794726..205903113hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38108388
hg19108388
hg18108388
hg17108388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701542
Samples
Known GenesPARD3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525418
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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