A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701394



Internal ID15438046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4963742..5044110hg38UCSC Ensembl
Innerchr7:5003373..5083741hg19UCSC Ensembl
Innerchr7:4969899..5050267hg18UCSC Ensembl
Innerchr7:4776614..4856982hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3880369
hg1980369
hg1880369
hg1780369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525289
Supporting Variants
Samples
Known GenesRNF216P1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701394
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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