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dbVar

Database of genomic structural variation

nsv4347287

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:20,273

Description:GRCh37/hg19 2q33.1(chr2:200213361-200233633) AND Chromosome 2q32-q33 deletion syndrome
Publication(s):Zarate et al. 2017

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: 146 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):199,348,638-199,368,910

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4347287	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	199,348,638	199,368,910
nsv4347287	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	200,213,361	200,233,633

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605950	copy number loss	Multiple	Multiple	2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000767783.1, VCV000625775.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605950	Remapped	Perfect	NC_000002.12:g.(?_ 199348638)_(199368 910_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	199,348,638	199,368,910
nssv15605950	Submitted genomic		NC_000002.11:g.(?_ 200213361)_(200233 633_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	200,213,361	200,233,633

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
nssv15605950	GRCh37: NC_000002.11:g.(?_200213361)_(200233633_?)del	copy number loss	maternal	2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV000767783.1, VCV000625775.1

No genotype data were submitted for this variant

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