A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051694



Internal ID21183739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247129991..247129991hg38UCSC Ensembl
chr1:247293293..247293293hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024807
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)nsv3051694
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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