A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1289n106



Internal ID22795117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4115999..4116599hg38UCSC Ensembl
chr16:4166000..4166600hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121906, nsv1144753
SamplesKWS2, KWS1
Known GenesADCY9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1289n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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