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dbVar

Database of genomic structural variation

nsv7148204

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:14,310,002

Description:GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 AND Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Publication(s):Varvagiannis et al. 2017

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: 53765 SVs from 138 studies. See in: genome view

Submitted genomic9,999-14,320,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148204	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	9,999	14,320,000
nsv7148204	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	10,001	14,320,109

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841914	copy number loss	Multiple	Multiple	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44; Mental retardation, autosomal dominant 44; See individual phenotypes in OMIM allelic variants; TRIO-Related Intellectual Disability	Pathogenic	ClinVar	RCV003327718.2, VCV002579279.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841914	Submitted genomic		NC_000005.10:g.999 9_14320000del	GRCh38 (hg38)		NC_000005.10	Chr5	9,999	14,320,000
nssv18841914	Remapped	Good	NC_000005.9:g.1000 1_14320109del	GRCh37.p13	First Pass	NC_000005.9	Chr5	10,001	14,320,109

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
nssv18841914	GRCh38: NC_000005.10:g.9999_14320000del	copy number loss	de novo	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44; Mental retardation, autosomal dominant 44; See individual phenotypes in OMIM allelic variants; TRIO-Related Intellectual Disability	Pathogenic	ClinVar	RCV003327718.2, VCV002579279.1	1

No genotype data were submitted for this variant

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