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dbVar

Database of genomic structural variation

nsv4347296

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:4,089,093

Description:GRCh37/hg19 2q37.3(chr2:238795602-242918203) AND Chromosome 2q37 deletion syndrome

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: 17239 SVs from 128 studies. See in: genome view

Remapped(Score: Good):237,886,960-241,976,052

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4347296	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	237,886,960	241,976,052
nsv4347296	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	238,795,602	242,918,203

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605955	copy number loss	Multiple	Multiple	2q37 microdeletion syndrome; CHROMOSOME 2q37 DELETION SYNDROME; Chromosome 2q37 deletion syndrome	Likely pathogenic	ClinVar	RCV000767788.1, VCV000625780.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605955	Remapped	Good	NC_000002.12:g.(?_ 237886960)_(241976 052_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	237,886,960	241,976,052
nssv15605955	Submitted genomic		NC_000002.11:g.(?_ 238795602)_(242918 203_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	238,795,602	242,918,203

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
nssv15605955	GRCh37: NC_000002.11:g.(?_238795602)_(242918203_?)del	copy number loss	germline	2q37 microdeletion syndrome; CHROMOSOME 2q37 DELETION SYNDROME; Chromosome 2q37 deletion syndrome	Likely pathogenic	ClinVar	RCV000767788.1, VCV000625780.1

No genotype data were submitted for this variant

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