A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14027984



Internal ID21161267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81210005..81210074hg38UCSC Ensembl
chr17:79183805..79183874hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052630
Supporting Variants
SamplesNA12878
Known GenesAZI1
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)nssv14027984
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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