A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120333



Internal ID18918370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91766504..91767776hg38UCSC Ensembl
Outerchr1:92232061..92233333hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv125n106
Supporting Variantsnssv3961905
SamplesKWS1
Known GenesTGFBR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120333
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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