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dbVar

Database of genomic structural variation

nsv4681251

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:55

Description:NC_000002.12:g.(?_190970683)_(190970737_?)dup AND multiple conditions

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: 98 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):190,970,683-190,970,737

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681251	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	190,970,683	190,970,737
nsv4681251	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	191,835,409	191,835,463

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214233	duplication	Multiple	Multiple	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; IMMUNODEFICIENCY 31A; IMD31A; IMMUNODEFICIENCY 31B; IMD31B; IMMUNODEFICIENCY 31C; IMD31C; Immunodeficiency 31C; Immunodeficiency 31a; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mycobacterial and viral infections, susceptibility to, autosomal recessive	Uncertain significance	ClinVar	RCV001032831.3, VCV000832334.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214233	Remapped	Perfect	NC_000002.12:g.(?_ 190970683)_(190970 737_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	190,970,683	190,970,737
nssv16214233	Submitted genomic		NC_000002.11:g.(?_ 191835409)_(191835 463_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	191,835,409	191,835,463

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
nssv16214233	GRCh37: NC_000002.11:g.(?_191835409)_(191835463_?)dup	duplication	germline	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; IMMUNODEFICIENCY 31A; IMD31A; IMMUNODEFICIENCY 31B; IMD31B; IMMUNODEFICIENCY 31C; IMD31C; Immunodeficiency 31C; Immunodeficiency 31a; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mycobacterial and viral infections, susceptibility to, autosomal recessive	Uncertain significance	ClinVar	RCV001032831.3, VCV000832334.3

No genotype data were submitted for this variant

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