A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528004



Internal ID15108611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19367261..19370686hg38UCSC Ensembl
Innerchr8:19224772..19228197hg19UCSC Ensembl
Innerchr8:19269052..19272477hg18UCSC Ensembl
Innerchr8:19269052..19272477hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383426
hg193426
hg183426
hg173426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704529
Samples
Known GenesSH2D4A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528004
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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