A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029709



Internal ID21158857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30752219..30752219hg38UCSC Ensembl
chr16:30763540..30763540hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3060221
Supporting Variants
SamplesCHM1
Known GenesPHKG2
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)nssv14029709
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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