A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054734



Internal ID21186697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96132259..96132361hg38UCSC Ensembl
chr6:96580135..96580237hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017836
SamplesNA12878
Known GenesFUT9
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3054734
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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