A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14036265



Internal ID21166779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7903130..7903364hg38UCSC Ensembl
chr1:7963190..7963424hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063386
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14036265
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer