A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14037108



Internal ID21167360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864249..8865276hg38UCSC Ensembl
chr12:9016845..9017872hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048920
Supporting Variants
SamplesNA12878
Known GenesA2ML1
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)nssv14037108
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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