A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022754



Internal ID21153753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1374511..1374741hg38UCSC Ensembl
chrX:1493404..1493634hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058772
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)nssv14022754
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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