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dbVar

Database of genomic structural variation

nsv3919397

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:379,362

Description:NCBI36/hg18 1q23.3(chr1:159103072-159482433)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: 1318 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):160,866,658-161,246,019

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3919397	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	160,866,658	161,246,019
nsv3919397	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	160,836,448	161,215,809
nsv3919397	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	159,103,072	159,482,433

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142865	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000511391.2, VCV000443876.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142865	Remapped	Perfect	NC_000001.11:g.(?_ 160866658)_(161246 019_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	160,866,658	161,246,019
nssv15142865	Remapped	Perfect	NC_000001.10:g.(?_ 160836448)_(161215 809_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	160,836,448	161,215,809
nssv15142865	Submitted genomic		NC_000001.9:g.(?_1 59103072)_(1594824 33_?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	159,103,072	159,482,433

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
nssv15142865	NCBI36: NC_000001.9:g.(?_159103072)_(159482433_?)dup	copy number gain	paternal	See cases	Likely benign	ClinVar	RCV000511391.2, VCV000443876.2	3

No genotype data were submitted for this variant

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