A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031907



Internal ID21154145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128464670..128464865hg38UCSC Ensembl
chr9:131226949..131227144hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056684
Supporting Variants
SamplesCHM1
Known GenesODF2
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)nssv14031907
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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