A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672375



Internal ID15062341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58305116..58358524hg38UCSC Ensembl
Innerchr17:56382477..56435885hg19UCSC Ensembl
Innerchr17:53737476..53790884hg18UCSC Ensembl
Innerchr17:53737476..53790884hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3853409
hg1953409
hg1853409
hg1753409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517229
Supporting Variants
Samples
Known GenesBZRAP1, BZRAP1-AS1, MIR142, MIR4736, RNF43, SUPT4H1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672375
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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