A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047149



Internal ID21179195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72928064..72928064hg38UCSC Ensembl
chr9:75542980..75542980hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018605
SamplesNA12878
Known GenesALDH1A1
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)nsv3047149
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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