A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702378



Internal ID15092344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3860639..3993513hg38UCSC Ensembl
Innerchr17:3763933..3896807hg19UCSC Ensembl
Innerchr17:3710682..3843556hg18UCSC Ensembl
Innerchr17:3710682..3843556hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38132875
hg19132875
hg18132875
hg17132875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526126
Supporting Variants
Samples
Known GenesATP2A3, CAMKK1, P2RX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702378
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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