A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051693



Internal ID21183738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247129869..247129869hg38UCSC Ensembl
chr1:247293171..247293171hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020008
SamplesNA12878
Known GenesZNF124
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)nsv3051693
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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