A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019571



Internal ID21170751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85767566..85767566hg38UCSC Ensembl
chr2:85994689..85994689hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3044410
Supporting Variants
SamplesNA12878
Known GenesATOH8
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)nssv14019571
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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