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dbVar

Database of genomic structural variation

nsv3910705

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:133,112

Description:NCBI36/hg18 17q22(chr17:54440700-54519212)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: 457 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):58,968,183-59,101,294

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
nsv3910705	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	58,968,183	59,008,557	59,087,069	59,101,294
nsv3910705	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	57,045,544	57,085,918	57,164,430	57,178,655
nsv3910705	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	54,400,326	54,440,700	54,519,212	54,533,437

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128002	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000451827.2, VCV000398036.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128002	Remapped	Perfect	NC_000017.11:g.(58 968183_59008557)_( 59087069_59101294) dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	58,968,183	59,008,557	59,087,069	59,101,294
nssv15128002	Remapped	Perfect	NC_000017.10:g.(57 045544_57085918)_( 57164430_57178655) dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	57,045,544	57,085,918	57,164,430	57,178,655
nssv15128002	Submitted genomic		NC_000017.9:g.(544 00326_54440700)_(5 4519212_54533437)d up	NCBI36 (hg18)		NC_000017.9	Chr17	54,400,326	54,440,700	54,519,212	54,533,437

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
nssv15128002	NCBI36: NC_000017.9:g.(54400326_54440700)_(54519212_54533437)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000451827.2, VCV000398036.2	3

No genotype data were submitted for this variant

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