A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801946



Internal ID21247284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234648..39234648hg38UCSC Ensembl
chr1:39700320..39700320hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13695937, nssv13688395
Samples
Known GenesMACF1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801946
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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