A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14023749



Internal ID21173506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212910887..212912829hg38UCSC Ensembl
chr1:213084229..213086171hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047938
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)nssv14023749
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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