A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116195



Internal ID19273081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20868405..20868484hg38UCSC Ensembl
Outerchr17:20771718..20771797hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954531
SamplesKWS1
Known GenesCCDC144NL, LOC440416
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116195
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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