A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327688



Internal ID20860829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112702675..113232556hg38UCSC Ensembl
chr1:113245297..113775178hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38529882
hg19529882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312n223
Supporting Variantsnssv18199284
Samples
Known GenesAKR7A2P1, FAM19A3, LOC100996251, LOC100996702, LOC643441, LRIG2, PPM1J, RHOC, SLC16A1, SLC16A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327688
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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