A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688522



Internal ID15078488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58316353..58335292hg38UCSC Ensembl
Innerchr17:56393714..56412653hg19UCSC Ensembl
Innerchr17:53748713..53767652hg18UCSC Ensembl
Innerchr17:53748713..53767652hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3818940
hg1918940
hg1818940
hg1718940
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
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688522
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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