A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048676



Internal ID21180724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48469350..48469403hg38UCSC Ensembl
chr2:48696489..48696542hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018693
SamplesNA12878
Known GenesPPP1R21
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)nsv3048676
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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