A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327145



Internal ID20860282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112818562..112980221hg38UCSC Ensembl
chr1:113361184..113522843hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38161660
hg19161660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199289
Samples
Known GenesAKR7A2P1, LOC100996702, SLC16A1, SLC16A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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