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

dbVar

Database of genomic structural variation

nsv3899598

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:39,422

Description:GRCh37/hg19 17q12(chr17:34205640-34245061)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: 181 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):35,878,636-35,918,057

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3899598	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	35,878,636	35,918,057
nsv3899598	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	113,168	152,589
nsv3899598	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	34,205,640	34,245,061

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140683	copy number gain	Multiple	Multiple	See cases	Benign	ClinVar	RCV000447613.3, VCV000395394.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140683	Remapped	Perfect	NT_187614.1:g.(?_1 13168)_(152589_?)d up	GRCh38.p12	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	113,168	152,589
nssv15140683	Remapped	Perfect	NC_000017.11:g.(?_ 35878636)_(3591805 7_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	35,878,636	35,918,057
nssv15140683	Submitted genomic		NC_000017.10:g.(?_ 34205640)_(3424506 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	34,205,640	34,245,061

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
nssv15140683	GRCh37: NC_000017.10:g.(?_34205640)_(34245061_?)dup	copy number gain	not provided	See cases	Benign	ClinVar	RCV000447613.3, VCV000395394.3	3

No genotype data were submitted for this variant

You are here: NCBI