A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14023751



Internal ID21155883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185222038..185222117hg38UCSC Ensembl
chr4:186143192..186143271hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055763
Supporting Variants
SamplesCHM1
Known GenesSNX25
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)nssv14023751
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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