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dbVar

Database of genomic structural variation

nsv3880638

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:321,524

Description:NC_000019.9:g.(?_13106632)_(13428155_?)del AND multiple conditions

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: 1049 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):12,995,818-13,317,341

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3880638	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	12,995,818	13,317,341
nsv3880638	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	13,106,632	13,428,155

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129274	deletion	Multiple	Multiple	MARSHALL-SMITH SYNDROME; MRSHSS; Malan overgrowth syndrome; Marshall-Smith syndrome; Marshall-Smith syndrome; SOTOS SYNDROME 2; SOTOS2; See individual phenotypes in OMIM allelic variants; Sotos syndrome 2	Pathogenic	ClinVar	RCV000543828.4, VCV000473244.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15129274	Remapped	Perfect	NC_000019.10:g.(?_ 12995818)_(1331734 1_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,995,818	13,317,341
nssv15129274	Submitted genomic		NC_000019.9:g.(?_1 3106632)_(13428155 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	13,106,632	13,428,155

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
nssv15129274	GRCh37: NC_000019.9:g.(?_13106632)_(13428155_?)del	deletion	germline	MARSHALL-SMITH SYNDROME; MRSHSS; Malan overgrowth syndrome; Marshall-Smith syndrome; Marshall-Smith syndrome; SOTOS SYNDROME 2; SOTOS2; See individual phenotypes in OMIM allelic variants; Sotos syndrome 2	Pathogenic	ClinVar	RCV000543828.4, VCV000473244.5

No genotype data were submitted for this variant

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