A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047950



Internal ID21179997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19668598..19669008hg38UCSC Ensembl
chr17:19571911..19572321hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026341
SamplesNA12878
Known GenesALDH3A2
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)nsv3047950
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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