A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701605



Internal ID15091571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35530803..35792888hg38UCSC Ensembl
Innerchr5:35530905..35792990hg19UCSC Ensembl
Innerchr5:35566662..35828747hg18UCSC Ensembl
Innerchr5:35566662..35828747hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38262086
hg19262086
hg18262086
hg17262086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525477
Supporting Variants
Samples
Known GenesSPEF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701605
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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