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dbVar

Database of genomic structural variation

nsv3894163

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:152,138

Description:GRCh37/hg19 18q12.2(chr18:34546490-34698627) AND Abnormal esophagus morphology
Publication(s):Brosens et al. 2016

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: 385 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):36,966,527-37,118,664

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3894163	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	36,966,527	37,118,664
nsv3894163	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	34,546,490	34,698,627

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15125381	copy number loss	Multiple	Multiple	Abnormal esophagus morphology; Abnormality of esophagus morphology	Likely benign	ClinVar	RCV000416801.1, VCV000226266.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15125381	Remapped	Perfect	NC_000018.10:g.(?_ 36966527)_(3711866 4_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	36,966,527	37,118,664
nssv15125381	Submitted genomic		NC_000018.9:g.(?_3 4546490)_(34698627 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	34,546,490	34,698,627

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
nssv15125381	GRCh37: NC_000018.9:g.(?_34546490)_(34698627_?)del	copy number loss	paternal	Abnormal esophagus morphology; Abnormality of esophagus morphology	Likely benign	ClinVar	RCV000416801.1, VCV000226266.1

No genotype data were submitted for this variant

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