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dbVar

Database of genomic structural variation

nsv7098841

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:8,031,049

Description:GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3 AND Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
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: 25197 SVs from 130 studies. See in: genome view

Remapped(Score: Perfect):10,149,143-18,180,191

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
nsv7098841	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	10,149,143	10,149,143	18,180,191	18,180,191
nsv7098841	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	10,149,255	10,165,922	18,156,739	18,180,300

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18792744	copy number gain	Multiple	Multiple	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	Pathogenic	ClinVar	RCV003159551.2, VCV002446724.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18792744	Remapped	Perfect	NC_000005.10:g.(10 149143_10149143)_( 18180191_18180191) dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	10,149,143	10,149,143	18,180,191	18,180,191
nssv18792744	Submitted genomic		NC_000005.9:g.(101 49255_10165922)_(1 8156739_18180300)d up	GRCh37 (hg19)		NC_000005.9	Chr5	10,149,255	10,165,922	18,156,739	18,180,300

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
nssv18792744	GRCh37: NC_000005.9:g.(10149255_10165922)_(18156739_18180300)dup	copy number gain	unknown	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	Pathogenic	ClinVar	RCV003159551.2, VCV002446724.2	3

No genotype data were submitted for this variant

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