A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054772



Internal ID21186735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:7331225..7331225hg38UCSC Ensembl
chr11:7352456..7352456hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032820
SamplesNA12878
Known GenesSYT9
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)nsv3054772
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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