A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031805



Internal ID21163806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101890476..101890476hg38UCSC Ensembl
chr12:102284254..102284254hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052934
Supporting Variants
SamplesNA12878
Known GenesDRAM1
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)nssv14031805
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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