A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056029



Internal ID21187953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:11174185..11174242hg38UCSC Ensembl
chrY:13329861..13329918hg19UCSC Ensembl
CytobandYq11.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027301
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)nsv3056029
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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