A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061014



Internal ID21192676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71962861..71964426hg38UCSC Ensembl
chr12:72356641..72358206hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028260
SamplesCHM1
Known GenesTPH2
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)nsv3061014
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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