A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768100



Internal ID19308619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127674925..127676426hg38UCSC Ensembl
chr2:128432499..128434000hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072974
Supporting Variants
SamplesKWP1
Known GenesLIMS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768100
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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