A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123005



Internal ID18909632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6636760..6636813hg38UCSC Ensembl
Outerchr16:6686761..6686814hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971989, nssv3955176
SamplesKWS1, KWS2
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123005
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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