Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6290149

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:93,383

Description:NC_000001.11:g.27491184_27584566del AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Publication(s):Chander et al. 2021

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: 273 SVs from 48 studies. See in: genome view

Submitted genomic27,491,184-27,584,566

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290149	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	27,491,184	27,584,566
nsv6290149	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	27,817,695	27,911,077

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17955849	deletion	Multiple	Multiple	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome; XIA-GIBBS SYNDROME; Xia-Gibbs Syndrome; Xia-Gibbs syndrome	Pathogenic	ClinVar	RCV001787408.3, VCV001327125.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955849	Submitted genomic		NC_000001.11:g.274 91184_27584566del	GRCh38 (hg38)		NC_000001.11	Chr1	27,491,184	27,584,566
nssv17955849	Remapped	Perfect	NC_000001.10:g.278 17695_27911077del	GRCh37.p13	First Pass	NC_000001.10	Chr1	27,817,695	27,911,077

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
nssv17955849	GRCh38: NC_000001.11:g.27491184_27584566del	deletion	de novo	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome; XIA-GIBBS SYNDROME; Xia-Gibbs Syndrome; Xia-Gibbs syndrome	Pathogenic	ClinVar	RCV001787408.3, VCV001327125.2

No genotype data were submitted for this variant

You are here: NCBI