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dbVar

Database of genomic structural variation

nsv6315043

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:61,797

Description:Single allele AND Chromosome 17P13.3, telomeric, duplication 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: 678 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):1,221,100-1,282,896

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6315043	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	1,221,100	1,282,896
nsv6315043	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	1,124,394	1,186,190

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976495	duplication	Multiple	Multiple	CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, telomeric, duplication syndrome; Tibial aplasia-ectrodactyly syndrome	Pathogenic	ClinVar	RCV002264899.1, VCV001695397.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17976495	Remapped	Perfect	NC_000017.11:g.122 1100_1282896dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	1,221,100	1,282,896
nssv17976495	Submitted genomic		NC_000017.10:g.112 4394_1186190dup	GRCh37 (hg19)		NC_000017.10	Chr17	1,124,394	1,186,190

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
nssv17976495	GRCh37: NC_000017.10:g.1124394_1186190dup	duplication	paternal	CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, telomeric, duplication syndrome; Tibial aplasia-ectrodactyly syndrome	Pathogenic	ClinVar	RCV002264899.1, VCV001695397.1

No genotype data were submitted for this variant

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