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dbVar

Database of genomic structural variation

nsv3886575

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:121,421

Description:GRCh37/hg19 5q31.1(chr5:131145181-131266601) 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: 335 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):131,809,488-131,930,908

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3886575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	131,809,488	131,930,908
nsv3886575	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	131,145,181	131,266,601

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15125358	copy number loss	Multiple	Multiple	Abnormal esophagus morphology; Abnormality of esophagus morphology	Likely benign	ClinVar	RCV000416718.1, VCV000226168.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15125358	Remapped	Perfect	NC_000005.10:g.(?_ 131809488)_(131930 908_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	131,809,488	131,930,908
nssv15125358	Submitted genomic		NC_000005.9:g.(?_1 31145181)_(1312666 01_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	131,145,181	131,266,601

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
nssv15125358	GRCh37: NC_000005.9:g.(?_131145181)_(131266601_?)del	copy number loss	unknown	Abnormal esophagus morphology; Abnormality of esophagus morphology	Likely benign	ClinVar	RCV000416718.1, VCV000226168.1

No genotype data were submitted for this variant

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