A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050448



Internal ID21182498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136302174..136307358hg38UCSC Ensembl
chr3:136021016..136026200hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg385185
hg195185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032627
SamplesNA12878
Known GenesPCCB
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)nsv3050448
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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