A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047546



Internal ID21179592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377978..45378058hg38UCSC Ensembl
chr13:45952113..45952193hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018134
SamplesNA12878
Known GenesTPT1-AS1
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)nsv3047546
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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