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dbVar

Database of genomic structural variation

nsv3901209

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:9,057,210

Description:GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) AND Intellectual disability
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: 24088 SVs from 127 studies. See in: genome view

Remapped(Score: Good):82,060,810-91,118,019

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3901209	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	82,060,810	91,118,019
nsv3901209	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	81,771,852	90,851,187

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15131270	copy number loss	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV000721939.2, VCV000590793.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15131270	Remapped	Good	NC_000011.10:g.(?_ 82060810)_(9111801 9_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	82,060,810	91,118,019
nssv15131270	Submitted genomic		NC_000011.9:g.(?_8 1771852)_(90851187 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	81,771,852	90,851,187

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
nssv15131270	GRCh37: NC_000011.9:g.(?_81771852)_(90851187_?)del	copy number loss	de novo	Intellectual Disability; Intellectual disability; Intellectual disability	Pathogenic	ClinVar	RCV000721939.2, VCV000590793.1

No genotype data were submitted for this variant

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