A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017586



Internal ID21158535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134665251..134665674hg38UCSC Ensembl
chr7:134350003..134350426hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055899
Supporting Variants
SamplesCHM1
Known GenesBPGM
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)nssv14017586
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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