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dbVar

Database of genomic structural variation

nsv4685989

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:15,852,901

Description:GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 38650 SVs from 134 studies. See in: genome view

Remapped(Score: Good):100,839,182-116,692,082

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
nsv4685989	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	100,839,182	100,839,182	116,692,082	116,692,082
nsv4685989	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	101,287,058	101,296,547	117,004,249	117,013,245

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16216867	copy number gain	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability; Microcephaly; Microcephaly	Pathogenic	ClinVar	RCV001251053.3, VCV000974790.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16216867	Remapped	Good	NC_000006.12:g.(10 0839182_100839182) _(116692082_116692 082)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	100,839,182	100,839,182	116,692,082	116,692,082
nssv16216867	Submitted genomic		NC_000006.11:g.(10 1287058_101296547) _(117004249_117013 245)dup	GRCh37 (hg19)		NC_000006.11	Chr6	101,287,058	101,296,547	117,004,249	117,013,245

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
nssv16216867	GRCh37: NC_000006.11:g.(101287058_101296547)_(117004249_117013245)dup	copy number gain	de novo	Intellectual Disability; Intellectual disability; Intellectual disability; Microcephaly; Microcephaly	Pathogenic	ClinVar	RCV001251053.3, VCV000974790.2	3

No genotype data were submitted for this variant

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