A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133481



Internal ID18939415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105744543..105745543hg38UCSC Ensembl
Outerchr2:106361000..106362000hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1985n106
Supporting Variantsnssv3969040
SamplesKWS2
Known GenesNCK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133481
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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