A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052168



Internal ID21184213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130268214..130269445hg38UCSC Ensembl
chr9:133030493..133031724hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381232
hg191232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029769
SamplesNA12878
Known Genes
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)nsv3052168
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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