A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801577



Internal ID21246915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230198312..230198312hg38UCSC Ensembl
chr1:230334058..230334058hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13689693
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801577
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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