A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025567



Internal ID21159972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158399114..158399457hg38UCSC Ensembl
chr3:158116903..158117246hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055705
Supporting Variants
SamplesCHM1
Known GenesRSRC1
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)nssv14025567
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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