A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767307



Internal ID19311485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170648689..170649290hg38UCSC Ensembl
chr2:171505199..171505800hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071634
Supporting Variants
SamplesKWP1
Known GenesMYO3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767307
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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