nsv7095112 - dbVar Variant - NCBI

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nsv7095112

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:614,537

Description:NC_000016.9:g.(?_88870240)_(89484776_?)dup AND KBG syndrome
Publication(s):Morel Swols et al. 2018

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: 3981 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):88,803,832-89,418,368

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095112	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	88,803,832	89,418,368
nsv7095112	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	88,870,240	89,484,776

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790786	duplication	Multiple	Multiple	KBG SYNDROME; KBGS; KBG Syndrome; KBG syndrome; KBG syndrome	Uncertain significance	ClinVar	RCV003116638.2, VCV002425844.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790786	Remapped	Perfect	NC_000016.10:g.(?_ 88803832)_(8941836 8_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	88,803,832	89,418,368
nssv18790786	Submitted genomic		NC_000016.9:g.(?_8 8870240)_(89484776 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	88,870,240	89,484,776

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
nssv18790786	GRCh37: NC_000016.9:g.(?_88870240)_(89484776_?)dup	duplication	germline	KBG SYNDROME; KBGS; KBG Syndrome; KBG syndrome; KBG syndrome	Uncertain significance	ClinVar	RCV003116638.2, VCV002425844.3

No genotype data were submitted for this variant

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