Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4716529

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:9,867,021

Description:GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) 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: 23758 SVs from 120 studies. See in: genome view

Remapped(Score: Perfect):189,480,546-199,347,566

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4716529	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	189,480,546	199,347,566
nsv4716529	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	190,345,272	200,212,289

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16252261	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	RCV001255693.2, VCV000977790.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16252261	Remapped	Perfect	NC_000002.12:g.(?_ 189480546)_(199347 566_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	189,480,546	199,347,566
nssv16252261	Submitted genomic		NC_000002.11:g.(?_ 190345272)_(200212 289_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	190,345,272	200,212,289

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
nssv16252261	GRCh37: NC_000002.11:g.(?_190345272)_(200212289_?)del	copy number loss	de novo	2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001255693.2, VCV000977790.2

No genotype data were submitted for this variant

You are here: NCBI