A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704034



Internal ID15440686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7531328..7532584hg38UCSC Ensembl
Innerchr7:7570959..7572215hg19UCSC Ensembl
Innerchr7:7537484..7538740hg18UCSC Ensembl
Innerchr7:7344199..7345455hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381257
hg191257
hg181257
hg171257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527573
Supporting Variants
Samples
Known GenesCOL28A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704034
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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