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dbVar

Database of genomic structural variation

nsv1398000

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:3,588,488

Description:GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) AND DYRK1A-related intellectual disability syndrome
Publication(s):Ji et al. 2015, van Bon et al. 2015

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: 10061 SVs from 111 studies. See in: genome view

Remapped(Score: Good):36,467,112-40,055,599

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1398000	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	36,467,112	40,055,599
nsv1398000	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	37,839,410	41,427,526

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv8639351	copy number loss	Multiple	Multiple	DYRK1A Syndrome; DYRK1A-related intellectual disability syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000190476.2, VCV000204003.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639351	Remapped	Good	NC_000021.9:g.3646 7112_40055599del	GRCh38.p12	First Pass	NC_000021.9	Chr21	36,467,112	40,055,599
nssv8639351	Submitted genomic		NC_000021.8:g.3783 9410_41427526del	GRCh37 (hg19)		NC_000021.8	Chr21	37,839,410	41,427,526

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
nssv8639351	GRCh37: NC_000021.8:g.37839410_41427526del	copy number loss	de novo	DYRK1A Syndrome; DYRK1A-related intellectual disability syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000190476.2, VCV000204003.2

No genotype data were submitted for this variant

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