A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065562



Internal ID21196997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51203211..51203482hg38UCSC Ensembl
chr7:51270908..51271179hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035794
SamplesCHM1
Known GenesCOBL
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)nsv3065562
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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