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dbVar

Database of genomic structural variation

nsv7096021

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:5,046

Description:NC_000020.10:g.(?_33044890)_(33049935_?)del AND Syndromic multisystem autoimmune disease due to ITCH deficiency

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: 120 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):34,457,085-34,462,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096021	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	34,457,085	34,462,130
nsv7096021	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	33,044,890	33,049,935

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787805	deletion	Multiple	Multiple	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD; Autoimmune disease, syndromic multisystem; See individual phenotypes in OMIM allelic variants; Syndromic multisystem autoimmune disease due to Itch deficiency	Likely pathogenic	ClinVar	RCV003122817.2, VCV002426984.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787805	Remapped	Perfect	NC_000020.11:g.(?_ 34457085)_(3446213 0_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	34,457,085	34,462,130
nssv18787805	Submitted genomic		NC_000020.10:g.(?_ 33044890)_(3304993 5_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	33,044,890	33,049,935

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
nssv18787805	GRCh37: NC_000020.10:g.(?_33044890)_(33049935_?)del	deletion	germline	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD; Autoimmune disease, syndromic multisystem; See individual phenotypes in OMIM allelic variants; Syndromic multisystem autoimmune disease due to Itch deficiency	Likely pathogenic	ClinVar	RCV003122817.2, VCV002426984.2

No genotype data were submitted for this variant

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