A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018071



Internal ID21169744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51498784..51498784hg38UCSC Ensembl
chr12:51892568..51892568hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38715
hg19715
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057024
Supporting Variants
SamplesNA12878
Known GenesSLC4A8
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)nssv14018071
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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