A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017734



Internal ID21160128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44954022..44954022hg38UCSC Ensembl
chr13:45528157..45528157hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061286
Supporting Variants
SamplesCHM1
Known GenesNUFIP1
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)nssv14017734
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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