A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109053



Internal ID19264108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20868978..20869034hg38UCSC Ensembl
Outerchr17:20772291..20772347hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954891
SamplesKWS1
Known GenesCCDC144NL, LOC440416
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109053
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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