A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250227



Internal ID21304210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18561908..18571332hg38UCSC Ensembl
Outerchr17:18561907..18592992hg38UCSC Ensembl
Innerchr17:18465222..18474646hg19UCSC Ensembl
Outerchr17:18465221..18496306hg19UCSC Ensembl
Innerchr17:18405947..18415371hg18UCSC Ensembl
Outerchr17:18405946..18437031hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3831086
hg1931086
hg1831086
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169646
Supporting Variants
SamplesNGO_11
Known GenesCCDC144B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250227
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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