A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024756



Internal ID21158163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147489694..147489749hg38UCSC Ensembl
chr1:146961517..146961572hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057433
Supporting Variants
SamplesCHM1
Known GenesLINC00624
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)nssv14024756
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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