A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075929



Internal ID19325386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20876286..20878887hg38UCSC Ensembl
chr17:20779599..20782200hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763495
SamplesKWP1
Known GenesCCDC144NL, LOC440416
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075929
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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