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dbVar

Database of genomic structural variation

nsv7096843

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:41,171

Description:NC_000004.11:g.(?_170482611)_(170523781_?)dup AND Short-rib thoracic dysplasia 6 with or without polydactyly

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: 199 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):169,561,460-169,602,630

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096843	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	169,561,460	169,602,630
nsv7096843	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	170,482,611	170,523,781

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790724	duplication	Multiple	Multiple	SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6; See individual phenotypes in OMIM allelic variants; Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance	ClinVar	RCV003116573.2, VCV002425781.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790724	Remapped	Perfect	NC_000004.12:g.(?_ 169561460)_(169602 630_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	169,561,460	169,602,630
nssv18790724	Submitted genomic		NC_000004.11:g.(?_ 170482611)_(170523 781_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	170,482,611	170,523,781

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
nssv18790724	GRCh37: NC_000004.11:g.(?_170482611)_(170523781_?)dup	duplication	germline	SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6; See individual phenotypes in OMIM allelic variants; Short-rib thoracic dysplasia 6 with or without polydactyly	Uncertain significance	ClinVar	RCV003116573.2, VCV002425781.2

No genotype data were submitted for this variant

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