A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047244



Internal ID21179290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49069318..49069318hg38UCSC Ensembl
chrX:48926970..48926970hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028376
SamplesNA12878
Known GenesCCDC120
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)nsv3047244
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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