A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3770710



Internal ID19310882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112118..220112428hg38UCSC Ensembl
chr1:220285460..220285770hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1068500
Supporting Variants
SamplesKWP1
Known GenesIARS2, RNU5F-1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3770710
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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