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

dbVar

Database of genomic structural variation

nsv3876149

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:268,778

Description:GRCh37/hg19 3p11.1(chr3:89417287-89686064)x3 AND not provided

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: 864 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):89,368,137-89,636,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3876149	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	89,368,137	89,636,914
nsv3876149	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	89,417,287	89,686,064

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15163821	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000742612.2, VCV000605976.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15163821	Remapped	Perfect	NC_000003.12:g.(?_ 89368137)_(8963691 4_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,368,137	89,636,914
nssv15163821	Submitted genomic		NC_000003.11:g.(?_ 89417287)_(8968606 4_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	89,417,287	89,686,064

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
nssv15163821	GRCh37: NC_000003.11:g.(?_89417287)_(89686064_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000742612.2, VCV000605976.2	3

No genotype data were submitted for this variant

You are here: NCBI