A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116829



Internal ID19262285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222932640..222932957hg38UCSC Ensembl
Outerchr2:223797358..223797675hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955620
SamplesKWS1
Known GenesACSL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116829
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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