A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121222



Internal ID19254759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168538952..168539264hg38UCSC Ensembl
Outerchr2:169395462..169395774hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2088n106
Supporting Variantsnssv3965679, nssv3966740
SamplesKWS2, KWS1
Known GenesCERS6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121222
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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