A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044597



Internal ID21176063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091431..241091431hg38UCSC Ensembl
chr2:242030846..242030846hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024994
SamplesNA12878
Known GenesMTERFD2, SNED1
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)nsv3044597
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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