A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701071



Internal ID15091037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89256179..89260909hg38UCSC Ensembl
Innerchr1:89721862..89726592hg19UCSC Ensembl
Innerchr1:89494450..89499180hg18UCSC Ensembl
Innerchr1:89433883..89438613hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg384731
hg194731
hg184731
hg174731
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525030
Supporting Variants
Samples
Known GenesGBP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701071
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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