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dbVar

Database of genomic structural variation

nsv3169197

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:137,041

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: 390 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):54,203,241-54,340,283

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3169197	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	54,203,242 (-1, +1)	54,340,282 (-1, +1)
nsv3169197	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	54,237,269 (-1, +1)	54,374,309 (-1, +1)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14239542	duplication	DB75	Sequencing	Paired-end mapping	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14239542	Remapped	Perfect	NC_000003.12:g.(54 203241_54203243)_( 54340281_54340283) dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	54,203,242 (-1, +1)	54,340,282 (-1, +1)
nssv14239542	Submitted genomic		NC_000003.11:g.(54 237268_54237270)_( 54374308_54374310) dup	GRCh37 (hg19)		NC_000003.11	Chr3	54,237,269 (-1, +1)	54,374,309 (-1, +1)

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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