A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030343



Internal ID21159792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1374792..1376189hg38UCSC Ensembl
chrX:1493685..1495082hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058773
Supporting Variants
SamplesCHM1
Known GenesIL3RA
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)nssv14030343
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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