A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704908



Internal ID15094874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86756104..86758489hg38UCSC Ensembl
Innerchr4:87677257..87679642hg19UCSC Ensembl
Innerchr4:87896281..87898666hg18UCSC Ensembl
Innerchr4:88034436..88036821hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg382386
hg192386
hg182386
hg172386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528327
Supporting Variants
Samples
Known GenesPTPN13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704908
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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