A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053122



Internal ID21185125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87492170..87492170hg38UCSC Ensembl
chr13:88144425..88144425hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019127
SamplesNA12878
Known GenesMIR4500HG
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)nsv3053122
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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