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dbVar

Database of genomic structural variation

nsv4436066

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex substitution
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:15,982

Description:46,XX,der(9)(q21.2,q21.2).seq[GRCh37/hg19]der(
9)(9pter->9q21.2(+)(8084369{7-8})::q21.2(-)(808497{60-59})
,q21.2(-)(8084946{5-3})::q21.2(+)(808596{79-81}->9qter) AND Cone-rod dystrophy and hearing loss 1
Publication(s):Sanchis-Juan et al. 2018

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: 89 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):78,228,782-78,244,763

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4436066	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	78,228,782	78,244,763
nsv4436066	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	80,843,698	80,859,679

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15754762	complex substitution	Multiple	Multiple	CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1; Cone-rod dystrophy and hearing loss 1	Pathogenic	ClinVar	RCV000714959.1, VCV000561260.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15754762	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	78,228,782	78,244,763
nssv15754762	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	80,843,698	80,859,679

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15754762	complex substitution	unknown	CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1; Cone-rod dystrophy and hearing loss 1	Pathogenic	ClinVar	RCV000714959.1, VCV000561260.1

No genotype data were submitted for this variant

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