A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048624



Internal ID21180672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177351483..177351606hg38UCSC Ensembl
chr2:178216211..178216334hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024476
SamplesNA12878
Known GenesLOC100130691
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)nsv3048624
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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