A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019632



Internal ID21170794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85568205..85568205hg38UCSC Ensembl
chrX:84823210..84823210hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047267
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14019632
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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