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dbVar

Database of genomic structural variation

nsv3922999

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:2,706,058

Description:NCBI36/hg18 19p13.2-13.13(chr19:10257803-12929208)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: 9111 SVs from 111 studies. See in: genome view

Remapped(Score: Good):10,268,395-12,974,452

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
nsv3922999	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	10,268,395	10,268,395	12,974,452	12,974,452
nsv3922999	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	10,379,071	10,396,803	13,068,208	13,085,266
nsv3922999	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000019.8	Chr19	10,240,071	10,257,803	12,929,208	12,946,266

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124596	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000449740.2, VCV000401701.2	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
nssv15124596	Remapped	Good	NC_000019.10:g.(10 268395_10268395)_( 12974452_12974452) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	10,268,395	10,268,395	12,974,452	12,974,452
nssv15124596	Remapped	Perfect	NC_000019.9:g.(103 79071_10396803)_(1 3068208_13085266)d el	GRCh37.p13	First Pass	NC_000019.9	Chr19	10,379,071	10,396,803	13,068,208	13,085,266
nssv15124596	Submitted genomic		NC_000019.8:g.(102 40071_10257803)_(1 2929208_12946266)d el	NCBI36 (hg18)		NC_000019.8	Chr19	10,240,071	10,257,803	12,929,208	12,946,266

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
nssv15124596	NCBI36: NC_000019.8:g.(10240071_10257803)_(12929208_12946266)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000449740.2, VCV000401701.2	1

No genotype data were submitted for this variant

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