Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3905500

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:73,155

Description:GRCh37/hg19 17q22(chr17:57061085-57134239)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: 332 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):58,983,724-59,056,878

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905500	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	58,983,724	59,056,878
nsv3905500	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	57,061,085	57,134,239

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140827	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000445903.3, VCV000395155.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140827	Remapped	Perfect	NC_000017.11:g.(?_ 58983724)_(5905687 8_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	58,983,724	59,056,878
nssv15140827	Submitted genomic		NC_000017.10:g.(?_ 57061085)_(5713423 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	57,061,085	57,134,239

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
nssv15140827	GRCh37: NC_000017.10:g.(?_57061085)_(57134239_?)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000445903.3, VCV000395155.3	3

No genotype data were submitted for this variant

You are here: NCBI