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

dbVar

Database of genomic structural variation

nsv3886702

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:6,245

Description:
GRCh37/hg19 1p33(chr1:47899684-47905928)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: 126 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):47,434,012-47,440,256

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3886702	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	47,434,012	47,440,256
nsv3886702	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	47,899,684	47,905,928

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140105	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000448531.3, VCV000394470.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140105	Remapped	Perfect	NC_000001.11:g.(?_ 47434012)_(4744025 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	47,434,012	47,440,256
nssv15140105	Submitted genomic		NC_000001.10:g.(?_ 47899684)_(4790592 8_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	47,899,684	47,905,928

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
nssv15140105	GRCh37: NC_000001.10:g.(?_47899684)_(47905928_?)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000448531.3, VCV000394470.3	3

No genotype data were submitted for this variant

You are here: NCBI