A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030034



Internal ID21162649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28742909..28742966hg38UCSC Ensembl
chr15:28988055..28988112hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052501
Supporting Variants
SamplesNA12878
Known GenesWHAMMP2
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)nssv14030034
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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