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dbVar

Database of genomic structural variation

nsv4768363

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:3,856

Description:GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1 AND Cardiac anomalies - developmental delay - facial dysmorphism 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: 82 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):116,235,335-116,239,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4768363	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	116,235,335	116,239,190
nsv4768363	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	116,673,140	116,676,995

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16296981	copy number loss	Multiple	Multiple	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD; Mental retardation and distinctive facial features with or without cardiac defects	Pathogenic	ClinVar	RCV001265127.1, VCV000984748.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16296981	Remapped	Perfect	NC_000012.12:g.(?_ 116235335)_(116239 190_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	116,235,335	116,239,190
nssv16296981	Submitted genomic		NC_000012.11:g.(?_ 116673140)_(116676 995_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	116,673,140	116,676,995

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
nssv16296981	GRCh37: NC_000012.11:g.(?_116673140)_(116676995_?)del	copy number loss	inherited	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency; MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD; Mental retardation and distinctive facial features with or without cardiac defects	Pathogenic	ClinVar	RCV001265127.1, VCV000984748.1	1

No genotype data were submitted for this variant

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