A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664549



Internal ID15054515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58176226..58339926hg38UCSC Ensembl
Innerchr17:56253587..56417287hg19UCSC Ensembl
Innerchr17:53608586..53772286hg18UCSC Ensembl
Innerchr17:53608586..53772286hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38163701
hg19163701
hg18163701
hg17163701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517229
Supporting Variants
Samples
Known GenesBZRAP1, BZRAP1-AS1, EPX, LPO, MIR142, MIR4736, MKS1, MPO
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664549
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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