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dbVar

Database of genomic structural variation

nsv4681081

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:193

Description:NC_000002.12:g.(?_9509959)_(9510151_?)dup AND Inflammatory skin and bowel disease, neonatal, 1

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: 41 SVs from 7 studies. See in: genome view

Remapped(Score: Perfect):9,509,959-9,510,151

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681081	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	9,509,959	9,510,151
nsv4681081	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	9,650,088	9,650,280

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214403	duplication	Multiple	Multiple	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1; Inflammatory skin and bowel disease, neonatal 1; Neonatal inflammatory skin and bowel disease	Uncertain significance	ClinVar	RCV001033170.3, VCV000832696.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214403	Remapped	Perfect	NC_000002.12:g.(?_ 9509959)_(9510151_ ?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	9,509,959	9,510,151
nssv16214403	Submitted genomic		NC_000002.11:g.(?_ 9650088)_(9650280_ ?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	9,650,088	9,650,280

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
nssv16214403	GRCh37: NC_000002.11:g.(?_9650088)_(9650280_?)dup	duplication	germline	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1; Inflammatory skin and bowel disease, neonatal 1; Neonatal inflammatory skin and bowel disease	Uncertain significance	ClinVar	RCV001033170.3, VCV000832696.3

No genotype data were submitted for this variant

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