A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323962



Internal ID20857085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212035414..212036860hg38UCSC Ensembl
chr1:212208756..212210202hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199943
Samples
Known GenesDTL, INTS7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323962
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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