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dbVar

Database of genomic structural variation

nsv4682037

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:785,580

Description:NC_000019.9:g.(?_7587617)_(8373194_?)dup AND Familial hemophagocytic lymphohistiocytosis 5

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: 3509 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):7,522,731-8,308,310

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682037	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	7,522,731	8,308,310
nsv4682037	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	7,587,617	8,373,194

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16211930	duplication	Multiple	Multiple	Familial hemophagocytic lymphohistiocytosis; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5; Hemophagocytic lymphohistiocytosis, familial, 5	Uncertain significance	ClinVar	RCV001031629.1, VCV000831037.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16211930	Remapped	Perfect	NC_000019.10:g.(?_ 7522731)_(8308310_ ?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	7,522,731	8,308,310
nssv16211930	Submitted genomic		NC_000019.9:g.(?_7 587617)_(8373194_? )dup	GRCh37 (hg19)		NC_000019.9	Chr19	7,587,617	8,373,194

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
nssv16211930	GRCh37: NC_000019.9:g.(?_7587617)_(8373194_?)dup	duplication	germline	Familial hemophagocytic lymphohistiocytosis; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5; Hemophagocytic lymphohistiocytosis, familial, 5	Uncertain significance	ClinVar	RCV001031629.1, VCV000831037.1

No genotype data were submitted for this variant

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