A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149501



Internal ID18854884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226152869..226153090hg38UCSC Ensembl
Outerchr2:227017585..227017806hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000801
SamplesKWB1
Known GenesLOC646736
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149501
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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