A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049875



Internal ID21181924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35576985..35577048hg38UCSC Ensembl
chr1:36042586..36042649hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029713
SamplesNA12878
Known GenesTFAP2E
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)nsv3049875
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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