A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136402



Internal ID19283543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:120886191..120886252hg38UCSC Ensembl
Outerchr2:121643767..121643828hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2012n106
Supporting Variantsnssv3972796
SamplesKWS2
Known GenesGLI2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136402
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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