A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048583



Internal ID21180631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105489227..105489303hg38UCSC Ensembl
chr2:106105684..106105760hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029245
SamplesNA12878
Known Genes
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)nsv3048583
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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