A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699780



Internal ID15089746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154323600..154335154hg38UCSC Ensembl
Innerchr1:154296076..154307630hg19UCSC Ensembl
Innerchr1:152562700..152574254hg18UCSC Ensembl
Innerchr1:151109149..151120703hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3811555
hg1911555
hg1811555
hg1711555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523934
Supporting Variants
Samples
Known GenesAQP10, ATP8B2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699780
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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