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dbVar

Database of genomic structural variation

nsv7137115

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:7,576,992

Description:GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 AND Chromosome 16p12.2-p11.2 deletion syndrome

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: 22148 SVs from 140 studies. See in: genome view

Remapped(Score: Perfect):21,456,405-29,033,396

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
nsv7137115	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	21,456,405	21,463,718	29,032,637	29,033,396
nsv7137115	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	21,467,726	21,475,039	29,043,958	29,044,717

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18830779	copy number loss	Multiple	Multiple	16p11.2p12.2 microdeletion syndrome; CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB; Chromosome 16p12.2-p11.2 deletion syndrome	Pathogenic	ClinVar	RCV003315282.1, VCV002573121.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18830779	Remapped	Perfect	NC_000016.10:g.(21 456405_21463718)_( 29032637_29033396) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	21,456,405	21,463,718	29,032,637	29,033,396
nssv18830779	Submitted genomic		NC_000016.9:g.(214 67726_21475039)_(2 9043958_29044717)d el	GRCh37 (hg19)		NC_000016.9	Chr16	21,467,726	21,475,039	29,043,958	29,044,717

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
nssv18830779	GRCh37: NC_000016.9:g.(21467726_21475039)_(29043958_29044717)del	copy number loss	de novo	16p11.2p12.2 microdeletion syndrome; CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB; Chromosome 16p12.2-p11.2 deletion syndrome	Pathogenic	ClinVar	RCV003315282.1, VCV002573121.1	1

No genotype data were submitted for this variant

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