A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010178



Internal ID22071809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20898426..20990448hg38UCSC Ensembl
Outerchr17:20889714..20992372hg38UCSC Ensembl
Innerchr17:20801739..20893761hg19UCSC Ensembl
Outerchr17:20793027..20895685hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38102659
hg19102659
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155394
Supporting Variants
Samples
Known GenesCCDC144NL, LOC440416
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010178
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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