A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317470



Internal ID20850556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3729218..3792151hg38UCSC Ensembl
chr1:3645782..3708715hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3862934
hg1962934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202455
Samples
Known GenesCCDC27, LRRC47, SMIM1, TP73, TP73-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317470
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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