A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123085



Internal ID18920520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89634545..89634642hg38UCSC Ensembl
Outerchr16:89700953..89701050hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972462, nssv3954872
SamplesKWS1, KWS2
Known GenesDPEP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123085
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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