A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701478



Internal ID15438130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100928646..101013620hg38UCSC Ensembl
Innerchr5:100264350..100349324hg19UCSC Ensembl
Innerchr5:100292249..100377223hg18UCSC Ensembl
Innerchr5:100292249..100377223hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3884975
hg1984975
hg1884975
hg1784975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525359
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701478
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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