A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048401



Internal ID21180448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47089409..47089409hg38UCSC Ensembl
chrX:46948808..46948808hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026704
SamplesNA12878
Known GenesRGN
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)nsv3048401
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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