A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14023312



Internal ID21173233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:27514168..27514168hg38UCSC Ensembl
chrX:27532285..27532285hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048390
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)nssv14023312
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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