A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046924



Internal ID21178970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1673973..1673973hg38UCSC Ensembl
chr6:1674207..1674207hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020465
SamplesNA12878
Known GenesGMDS
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)nsv3046924
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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