A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700352



Internal ID15437004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2769045..2802749hg38UCSC Ensembl
Innerchr4:2770772..2804476hg19UCSC Ensembl
Innerchr4:2740570..2774274hg18UCSC Ensembl
Innerchr4:2807977..2841681hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3833705
hg1933705
hg1833705
hg1733705
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516797
Supporting Variants
Samples
Known GenesSH3BP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700352
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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