A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017280



Internal ID21169200
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 StatusS
Merged Variantsnsv3053453
Supporting Variants
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)nssv14017280
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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