A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020910



Internal ID21171661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236344959..236344959hg38UCSC Ensembl
chr2:237253602..237253602hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059284
Supporting Variants
SamplesNA12878
Known GenesIQCA1
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)nssv14020910
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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