A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022510



Internal ID21172698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:3140968..3140968hg38UCSC Ensembl
chrY:3009009..3009009hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3051905
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)nssv14022510
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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