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dbVar

Database of genomic structural variation

nsv3168521

Organism: Homo sapiens

Study:nstd158 (Cleal et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:124,957

Publication(s):Cleal et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 441 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):141,884,616-142,009,582

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3168521	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	141,884,621 (-5, +5)	142,009,577 (-5, +5)
nsv3168521	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	142,642,190 (-5, +5)	142,767,146 (-5, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14239521	duplication	DB79	Sequencing	Paired-end mapping	61

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14239521	Remapped	Perfect	NC_000002.12:g.(14 1884616_141884626) _(142009572_142009 582)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	141,884,621 (-5, +5)	142,009,577 (-5, +5)
nssv14239521	Submitted genomic		NC_000002.11:g.(14 2642185_142642195) _(142767141_142767 151)dup	GRCh37 (hg19)		NC_000002.11	Chr2	142,642,190 (-5, +5)	142,767,146 (-5, +5)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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