A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050109



Internal ID21182158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108043628..108043689hg38UCSC Ensembl
chr7:107684073..107684134hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031675
SamplesNA12878
Known GenesLAMB4
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)nsv3050109
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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