A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025512



Internal ID21159797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14212221..14212282hg38UCSC Ensembl
chr7:14251846..14251907hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055901
Supporting Variants
SamplesCHM1
Known GenesDGKB
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)nssv14025512
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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