A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047938



Internal ID21179985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212910887..212912829hg38UCSC Ensembl
chr1:213084229..213086171hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023749
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)nsv3047938
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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