A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018907



Internal ID21170285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31097178..31097241hg38UCSC Ensembl
chr12:31250112..31250175hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3044717
Supporting Variants
SamplesNA12878
Known GenesDDX11
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)nssv14018907
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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