A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025055



Internal ID21158784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7230262..7230327hg38UCSC Ensembl
chr4:7231989..7232054hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3060087
Supporting Variants
SamplesCHM1
Known GenesSORCS2
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)nssv14025055
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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