A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136482



Internal ID19258842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233360997..233361048hg38UCSC Ensembl
Outerchr2:234269643..234269694hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972873
SamplesKWS2
Known GenesDGKD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136482
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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