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dbVar

Database of genomic structural variation

nsv6309649

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:10,946

Description:NC_000016.9:g.(?_14693741)_(14704686_?)dup AND multiple conditions
Publication(s):Savage et al. 2009, Talbert et al. 2005

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: 81 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):14,599,884-14,610,829

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309649	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	14,599,884	14,610,829
nsv6309649	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	172,741	183,686
nsv6309649	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	14,693,741	14,704,686

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973968	duplication	Multiple	Multiple	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6; Dyskeratosis Congenita; Dyskeratosis congenita, autosomal recessive 6; Idiopathic pulmonary fibrosis; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; See individual phenotypes in OMIM allelic variants	Likely pathogenic	ClinVar	RCV002048166.3, VCV001507779.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973968	Remapped	Perfect	NT_187607.1:g.(?_1 72741)_(183686_?)d up	GRCh38.p12	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	172,741	183,686
nssv17973968	Remapped	Perfect	NC_000016.10:g.(?_ 14599884)_(1461082 9_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	14,599,884	14,610,829
nssv17973968	Submitted genomic		NC_000016.9:g.(?_1 4693741)_(14704686 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	14,693,741	14,704,686

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
nssv17973968	GRCh37: NC_000016.9:g.(?_14693741)_(14704686_?)dup	duplication	germline	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6; Dyskeratosis Congenita; Dyskeratosis congenita, autosomal recessive 6; Idiopathic pulmonary fibrosis; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; See individual phenotypes in OMIM allelic variants	Likely pathogenic	ClinVar	RCV002048166.3, VCV001507779.6

No genotype data were submitted for this variant

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