A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024822



Internal ID21174222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27107210..27107210hg38UCSC Ensembl
chr1:27433701..27433701hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3051701
Supporting Variants
SamplesNA12878
Known GenesSLC9A1
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)nssv14024822
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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