A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053604



Internal ID21185606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146182205..146182441hg38UCSC Ensembl
chr1:145255752..145255988hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020785
SamplesNA12878
Known GenesLOC100288142, NBPF9, NOTCH2NL
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)nsv3053604
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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