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dbVar

Database of genomic structural variation

nsv5381783

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:6,821,204

Description:GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) AND multiple conditions

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: 15884 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):41,084,766-47,905,969

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381783	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	41,084,766	47,905,969
nsv5381783	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	41,124,364	47,945,566

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867386	copy number loss	Multiple	Multiple	Hand polydactyly; Hand polydactyly; Neurodevelopmental delay; Neurodevelopmental delay; Non-syndromic syndactyly; Syndactyly	Pathogenic	ClinVar	RCV001352654.1, VCV001047885.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867386	Remapped	Perfect	NC_000007.14:g.(?_ 41084766)_(4790596 9_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	41,084,766	47,905,969
nssv16867386	Submitted genomic		NC_000007.13:g.(?_ 41124364)_(4794556 6_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	41,124,364	47,945,566

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
nssv16867386	GRCh37: NC_000007.13:g.(?_41124364)_(47945566_?)del	copy number loss	de novo	Hand polydactyly; Hand polydactyly; Neurodevelopmental delay; Neurodevelopmental delay; Non-syndromic syndactyly; Syndactyly	Pathogenic	ClinVar	RCV001352654.1, VCV001047885.1

No genotype data were submitted for this variant

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