A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705883



Internal ID15442535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45121631..45122927hg38UCSC Ensembl
Innerchr17:43198998..43200294hg19UCSC Ensembl
Innerchr17:40554524..40555820hg18UCSC Ensembl
Innerchr17:40554524..40555820hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381297
hg191297
hg181297
hg171297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522514
Supporting Variants
Samples
Known GenesPLCD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705883
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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