A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057941



Internal ID21189747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99101898..99102233hg38UCSC Ensembl
chr4:100023049..100023384hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1035n140
Supporting Variantsnssv14022630
SamplesCHM1
Known GenesLOC100507053
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)nsv3057941
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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