A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14026281



Internal ID21175209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202545223..202545223hg38UCSC Ensembl
chr2:203409946..203409946hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055050
Supporting Variants
SamplesNA12878
Known GenesBMPR2
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)nssv14026281
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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