A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971603



Internal ID18881474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7504728..7504801hg38UCSC Ensembl
Outerchr16:7554730..7554803hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123006
Supporting Variants
SamplesKWS2
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971603
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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