A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046899



Internal ID21178945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149776329..149776329hg38UCSC Ensembl
chr6:150097465..150097465hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033270
SamplesNA12878
Known GenesPCMT1
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)nsv3046899
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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