A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047954



Internal ID21180001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21309595..21317871hg38UCSC Ensembl
chr17:21212907..21221183hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388277
hg198277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017632
SamplesNA12878
Known GenesMAP2K3
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)nsv3047954
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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