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dbVar

Database of genomic structural variation

nsv7093727

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:11,067

Description:NC_000010.10:g.(?_73111299)_(73122365_?)del AND H 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: 87 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):71,351,542-71,362,608

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093727	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	71,351,542	71,362,608
nsv7093727	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	73,111,299	73,122,365

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786987	deletion	Multiple	Multiple	H syndrome; HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME; Histiocytosis-lymphadenopathy plus syndrome; MOVED TO 602782	Pathogenic	ClinVar	RCV003119905.2, VCV002426464.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786987	Remapped	Perfect	NC_000010.11:g.(?_ 71351542)_(7136260 8_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	71,351,542	71,362,608
nssv18786987	Submitted genomic		NC_000010.10:g.(?_ 73111299)_(7312236 5_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	73,111,299	73,122,365

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
nssv18786987	GRCh37: NC_000010.10:g.(?_73111299)_(73122365_?)del	deletion	germline	H syndrome; HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME; Histiocytosis-lymphadenopathy plus syndrome; MOVED TO 602782	Pathogenic	ClinVar	RCV003119905.2, VCV002426464.2

No genotype data were submitted for this variant

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