A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022597



Internal ID21153375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93010665..93010734hg38UCSC Ensembl
chr9:95772947..95773016hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058764
Supporting Variants
SamplesCHM1
Known GenesFGD3
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)nssv14022597
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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