A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv26n140



Internal ID22810963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66735523..66735871hg38UCSC Ensembl
chr1:67201206..67201554hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3060001, nsv3049297
SamplesCHM1, NA12878
Known GenesSGIP1
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)dgv26n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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