A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14023345



Internal ID21173262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43798138..43798138hg38UCSC Ensembl
chr19:44302290..44302290hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056376
Supporting Variants
SamplesNA12878
Known GenesLYPD5
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)nssv14023345
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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