A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700122



Internal ID15436774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175434373..175442842hg38UCSC Ensembl
Innerchr1:175403509..175411978hg19UCSC Ensembl
Innerchr1:173670132..173678601hg18UCSC Ensembl
Innerchr1:172135166..172143635hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg388470
hg198470
hg188470
hg178470
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524232
Supporting Variants
Samples
Known GenesTNR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700122
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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