A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118120



Internal ID19249008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54488327..54488927hg38UCSC Ensembl
Outerchr1:54954000..54954600hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980340
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118120
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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