A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129590



Internal ID19276054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20867022..20868404hg38UCSC Ensembl
Outerchr17:20770335..20771717hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963861
SamplesKWS1
Known GenesCCDC144NL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129590
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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