A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049672



Internal ID21181721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9923311..9923407hg38UCSC Ensembl
chr18:9923308..9923404hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029594
SamplesNA12878
Known GenesVAPA
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)nsv3049672
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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