A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024820



Internal ID21174221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156836758..156836810hg38UCSC Ensembl
chr1:156806550..156806602hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045157
Supporting Variants
SamplesNA12878
Known GenesNTRK1
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)nssv14024820
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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