A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063512



Internal ID21195042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368483..172368723hg38UCSC Ensembl
chr5:171795487..171795727hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035917
SamplesNA12878
Known GenesSH3PXD2B
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)nsv3063512
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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