A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061857



Internal ID21193479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71337673..71337673hg38UCSC Ensembl
chr2:71564803..71564803hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024693
SamplesCHM1
Known GenesZNF638
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)nsv3061857
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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