A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044695



Internal ID21176181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26150553..26150622hg38UCSC Ensembl
chr12:26303486..26303555hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016888
SamplesNA12878
Known Genes
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)nsv3044695
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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