A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048626



Internal ID21180674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117029136..117029234hg38UCSC Ensembl
chr1:117571758..117571856hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018971
SamplesNA12878
Known GenesCD101
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)nsv3048626
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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