A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031274



Internal ID21163446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:6003909..6004240hg38UCSC Ensembl
chrY:5871950..5872281hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3051586
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)nssv14031274
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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