A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767947



Internal ID18958685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120735423..120736324hg38UCSC Ensembl
chr2:121492999..121493900hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072972
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767947
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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