A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1108982



Internal ID18919442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7504717..7504787hg38UCSC Ensembl
Outerchr16:7554719..7554789hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1294n106
Supporting Variantsnssv3954790
SamplesKWS1
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1108982
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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