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dbVar

Database of genomic structural variation

nsv7095484

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:10,382

Description:NC_000001.10:g.(?_160309679)_(160320060_?)dup AND Autoimmune interstitial lung disease-arthritis syndrome

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

Remapped(Score: Perfect):160,339,889-160,350,270

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095484	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	160,339,889	160,350,270
nsv7095484	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	160,309,679	160,320,060

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789804	duplication	Multiple	Multiple	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK; Autoimmune interstitial lung disease-arthritis syndrome; Autoimmune interstitial lung disease-arthritis syndrome	Uncertain significance	ClinVar	RCV003113456.2, VCV002425089.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789804	Remapped	Perfect	NC_000001.11:g.(?_ 160339889)_(160350 270_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	160,339,889	160,350,270
nssv18789804	Submitted genomic		NC_000001.10:g.(?_ 160309679)_(160320 060_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	160,309,679	160,320,060

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
nssv18789804	GRCh37: NC_000001.10:g.(?_160309679)_(160320060_?)dup	duplication	germline	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK; Autoimmune interstitial lung disease-arthritis syndrome; Autoimmune interstitial lung disease-arthritis syndrome	Uncertain significance	ClinVar	RCV003113456.2, VCV002425089.2

No genotype data were submitted for this variant

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