A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250983



Internal ID21302079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18593989hg38UCSC Ensembl
Outerchr17:18416548..18596118hg38UCSC Ensembl
Innerchr17:18355392..18497303hg19UCSC Ensembl
Outerchr17:18319862..18499431hg19UCSC Ensembl
Innerchr17:18296117..18438028hg18UCSC Ensembl
Outerchr17:18260587..18440156hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38179571
hg19179570
hg18179570
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169646
Supporting Variants
SamplesMLY_12
Known GenesCCDC144B, FAM106A, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250983
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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