A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199714



Internal ID20766754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57695681..58296156hg38UCSC Ensembl
chr19:58207049..58807522hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38600476
hg19600474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529204
Supporting Variants
Samples
Known GenesC19orf18, FKBP1AP1, LOC100128398, ZNF135, ZNF154, ZNF256, ZNF274, ZNF329, ZNF417, ZNF418, ZNF544, ZNF552, ZNF586, ZNF587, ZNF587B, ZNF606, ZNF671, ZNF776, ZNF8, ZNF814, ZSCAN1, ZSCAN18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199714
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer