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dbVar

Database of genomic structural variation

nsv7148136

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:1,141,204

Description:GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1 AND Motor developmental delay due to 14q32.2 paternally expressed gene defect

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: 3628 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):99,900,922-101,042,125

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv7148136	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	99,900,922	99,930,669	101,022,599	101,042,125
nsv7148136	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	100,367,259	100,397,006	101,488,936	101,508,462

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842016	copy number loss	Multiple	Multiple	Motor developmental delay due to 14q32.2 paternally expressed gene defect; TEMPLE SYNDROME	Pathogenic	ClinVar	RCV003325926.1, VCV002578330.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18842016	Remapped	Perfect	NC_000014.9:g.(999 00922_99930669)_(1 01022599_101042125 )del	GRCh38.p12	First Pass	NC_000014.9	Chr14	99,900,922	99,930,669	101,022,599	101,042,125
nssv18842016	Submitted genomic		NC_000014.8:g.(100 367259_100397006)_ (101488936_1015084 62)del	GRCh37 (hg19)		NC_000014.8	Chr14	100,367,259	100,397,006	101,488,936	101,508,462

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	Copy number
nssv18842016	GRCh37: NC_000014.8:g.(100367259_100397006)_(101488936_101508462)del	copy number loss	unknown	Motor developmental delay due to 14q32.2 paternally expressed gene defect; TEMPLE SYNDROME	Pathogenic	ClinVar	RCV003325926.1, VCV002578330.2	1

No genotype data were submitted for this variant

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