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dbVar

Database of genomic structural variation

nsv7098778

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:8,189

Description:Single allele AND Familial hemophagocytic lymphohistiocytosis 3

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: 157 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):75,831,641-75,839,829

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7098778	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	75,831,641	75,832,132	75,839,760	75,839,829
nsv7098778	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	73,827,722	73,828,213	73,835,841	73,835,910

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18792552	deletion	Multiple	Multiple	Familial hemophagocytic lymphohistiocytosis; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3; Hemophagocytic lymphohistiocytosis, familial, 3	Pathogenic	ClinVar	RCV003148581.1, VCV002442244.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18792552	Remapped	Perfect	NC_000017.11:g.(75 831641_75832132)_( 75839760_75839829) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	75,831,641	75,832,132	75,839,760	75,839,829
nssv18792552	Submitted genomic		NC_000017.10:g.(73 827722_73828213)_( 73835841_73835910) del	GRCh37 (hg19)		NC_000017.10	Chr17	73,827,722	73,828,213	73,835,841	73,835,910

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	Copy number
nssv18792552	GRCh37: NC_000017.10:g.(73827722_73828213)_(73835841_73835910)del	deletion	paternal	Familial hemophagocytic lymphohistiocytosis; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3; Hemophagocytic lymphohistiocytosis, familial, 3	Pathogenic	ClinVar	RCV003148581.1, VCV002442244.1	1

No genotype data were submitted for this variant

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