A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048648



Internal ID21180696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232836277..232836344hg38UCSC Ensembl
chr2:233700987..233701054hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022802
SamplesNA12878
Known GenesGIGYF2
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)nsv3048648
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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