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dbVar

Database of genomic structural variation

nsv5381759

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:10,073,418

Description:GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Mintz 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: 23951 SVs from 125 studies. See in: genome view

Remapped(Score: Perfect):116,657,223-126,730,640

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381759	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	116,657,223	126,730,640
nsv5381759	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	116,297,277	126,370,694

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867374	copy number loss	Multiple	Multiple	Global developmental delay; Global developmental delay; Microcephaly; Microcephaly; Short stature; Short stature	Pathogenic	ClinVar	RCV001352642.1, VCV001047873.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867374	Remapped	Perfect	NC_000007.14:g.(?_ 116657223)_(126730 640_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	116,657,223	126,730,640
nssv16867374	Submitted genomic		NC_000007.13:g.(?_ 116297277)_(126370 694_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	116,297,277	126,370,694

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
nssv16867374	GRCh37: NC_000007.13:g.(?_116297277)_(126370694_?)del	copy number loss	de novo	Global developmental delay; Global developmental delay; Microcephaly; Microcephaly; Short stature; Short stature	Pathogenic	ClinVar	RCV001352642.1, VCV001047873.1

No genotype data were submitted for this variant

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