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dbVar

Database of genomic structural variation

nsv3920339

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:16,305,440

Description:NCBI36/hg18 5q34-35.3(chr5:164323950-180629412)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: 47856 SVs from 136 studies. See in: genome view

Remapped(Score: Perfect):164,964,366-181,269,805

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3920339	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	164,964,366	181,269,805
nsv3920339	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	164,391,372	180,696,806
nsv3920339	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	164,323,950	180,629,412

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141053	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510202.2, VCV000443906.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141053	Remapped	Perfect	NC_000005.10:g.(?_ 164964366)_(181269 805_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	164,964,366	181,269,805
nssv15141053	Remapped	Perfect	NC_000005.9:g.(?_1 64391372)_(1806968 06_?)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	164,391,372	180,696,806
nssv15141053	Submitted genomic		NC_000005.8:g.(?_1 64323950)_(1806294 12_?)dup	NCBI36 (hg18)		NC_000005.8	Chr5	164,323,950	180,629,412

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
nssv15141053	NCBI36: NC_000005.8:g.(?_164323950)_(180629412_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510202.2, VCV000443906.2	3

No genotype data were submitted for this variant

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