A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062466



Internal ID21194027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29641687..29647708hg38UCSC Ensembl
chr13:30215824..30221845hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386022
hg196022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029375
SamplesCHM1
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)nsv3062466
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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