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dbVar

Database of genomic structural variation

nsv3918947

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:85,432,637

Description:NCBI36/hg18 1q21.1-44(chr1:144475856-146327235)x3 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: 157484 SVs from 150 studies. See in: genome view

Remapped(Score: Pass):120,836,007-206,268,643

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3918947	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	120,836,007	206,268,643	-
nsv3918947	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	145,764,499	249,233,096	249,233,096
nsv3918947	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	144,475,856	146,327,235	247,199,719

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127572	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453564.2, VCV000393652.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15127572	Remapped	Pass	NC_000001.11:g.(?_ 120836007)_(206268 643_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	120,836,007	206,268,643	-
nssv15127572	Remapped	Good	NC_000001.10:g.(?_ 145764499)_(249233 096_249233096)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	145,764,499	249,233,096	249,233,096
nssv15127572	Submitted genomic		NC_000001.9:g.(?_1 44475856)_(1463272 35_247199719)dup	NCBI36 (hg18)		NC_000001.9	Chr1	144,475,856	146,327,235	247,199,719

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
nssv15127572	NCBI36: NC_000001.9:g.(?_144475856)_(146327235_247199719)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000453564.2, VCV000393652.2	3

No genotype data were submitted for this variant

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