A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033588



Internal ID21155820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65172200..65172200hg38UCSC Ensembl
chr5:64468027..64468027hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066537
Supporting Variants
SamplesCHM1
Known GenesADAMTS6
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)nssv14033588
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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