A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704287



Internal ID15440939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67421025..67435831hg38UCSC Ensembl
Innerchr17:65417141..65431947hg19UCSC Ensembl
Innerchr17:62847603..62862409hg18UCSC Ensembl
Innerchr17:62847603..62862409hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3814807
hg1914807
hg1814807
hg1714807
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527795
Supporting Variants
Samples
Known GenesPITPNC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704287
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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