A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14035488



Internal ID21157655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195740601..195740667hg38UCSC Ensembl
chr2:196605325..196605391hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3065234
Supporting Variants
SamplesCHM1
Known GenesDNAH7
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)nssv14035488
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