A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699854



Internal ID15089820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247828307..247829483hg38UCSC Ensembl
Innerchr1:247991609..247992785hg19UCSC Ensembl
Innerchr1:246058232..246059408hg18UCSC Ensembl
Innerchr1:244317650..244318826hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381177
hg191177
hg181177
hg171177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515858
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699854
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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