A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030349



Internal ID21162850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1010925..1010925hg38UCSC Ensembl
chr10:1056865..1056865hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054103
Supporting Variants
SamplesNA12878
Known GenesGTPBP4
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)nssv14030349
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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