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dbVar

Database of genomic structural variation

nsv3913790

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:5,392,755

Description:NCBI36/hg18 1p36.22-36.21(chr1:10393568-15952112)x1 AND See cases

Links to Other Resources

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: 16736 SVs from 127 studies. See in: genome view

Remapped(Score: Good):10,388,082-15,780,836

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3913790	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	10,388,082	10,388,082	15,780,836	15,780,836
nsv3913790	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	10,448,139	10,448,139	16,107,331	16,107,331
nsv3913790	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	10,370,726	10,393,568	15,952,112	15,979,918

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127569	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453559.2, VCV000399749.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127569	Remapped	Good	NC_000001.11:g.(10 388082_10388082)_( 15780836_15780836) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,388,082	10,388,082	15,780,836	15,780,836
nssv15127569	Remapped	Good	NC_000001.10:g.(10 448139_10448139)_( 16107331_16107331) del	GRCh37.p13	First Pass	NC_000001.10	Chr1	10,448,139	10,448,139	16,107,331	16,107,331
nssv15127569	Submitted genomic		NC_000001.9:g.(103 70726_10393568)_(1 5952112_15979918)d el	NCBI36 (hg18)		NC_000001.9	Chr1	10,370,726	10,393,568	15,952,112	15,979,918

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127569	NCBI36: NC_000001.9:g.(10370726_10393568)_(15952112_15979918)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000453559.2, VCV000399749.2	1

No genotype data were submitted for this variant

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