A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114155



Internal ID18911332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188980357..188980435hg38UCSC Ensembl
Outerchr2:189845083..189845161hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955992, nssv3973178
SamplesKWS1, KWS2
Known GenesCOL3A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114155
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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