A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065144



Internal ID21196580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238231713..238231713hg38UCSC Ensembl
chr2:239140354..239140354hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034216
SamplesNA12878
Known GenesLOC643387
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)nsv3065144
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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