A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053453



Internal ID21185456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:7363458..7364699hg38UCSC Ensembl
chrY:7231499..7232740hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017280
SamplesNA12878
Known GenesPRKY
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)nsv3053453
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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