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dbVar

Database of genomic structural variation

nsv5673595

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:736,489

Description:NC_000006.11:g.(?_143772160)_(144508648_?)del AND Familial hemophagocytic lymphohistiocytosis 4

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: 1696 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):143,451,023-144,187,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673595	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	143,451,023	144,187,511
nsv5673595	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	143,772,160	144,508,648

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17173158	deletion	Multiple	Multiple	Familial hemophagocytic lymphohistiocytosis; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4; Hemophagocytic lymphohistiocytosis, familial, 4	Pathogenic	ClinVar	RCV001383555.4, VCV001071172.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17173158	Remapped	Perfect	NC_000006.12:g.(?_ 143451023)_(144187 511_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	143,451,023	144,187,511
nssv17173158	Submitted genomic		NC_000006.11:g.(?_ 143772160)_(144508 648_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	143,772,160	144,508,648

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
nssv17173158	GRCh37: NC_000006.11:g.(?_143772160)_(144508648_?)del	deletion	germline	Familial hemophagocytic lymphohistiocytosis; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4; Hemophagocytic lymphohistiocytosis, familial, 4	Pathogenic	ClinVar	RCV001383555.4, VCV001071172.4

No genotype data were submitted for this variant

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