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dbVar

Database of genomic structural variation

nsv3922838

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:17,244,502

Description:GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614) AND Monosomy 21

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: 48951 SVs from 135 studies. See in: genome view

Submitted genomic10,366,915-27,611,416

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3922838	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	10,366,915	13,048,294	27,532,614	27,611,416
nsv3922838	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	-	14,338,130	28,983,735	28,983,735

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15139554	copy number loss	Multiple	Multiple	Chromosome 21 monosomy	Pathogenic	ClinVar	RCV000225452.2, VCV000236548.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15139554	Submitted genomic		NC_000021.9:g.(103 66915_13048294)_(2 7532614_27611416)d el	GRCh38 (hg38)		NC_000021.9	Chr21	10,366,915	13,048,294	27,532,614	27,611,416
nssv15139554	Remapped	Pass	NC_000021.8:g.(?_1 4338130)_(28983735 _28983735)del	GRCh37.p13	First Pass	NC_000021.8	Chr21	-	14,338,130	28,983,735	28,983,735

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
nssv15139554	GRCh38: NC_000021.9:g.(10366915_13048294)_(27532614_27611416)del	copy number loss	de novo	Chromosome 21 monosomy	Pathogenic	ClinVar	RCV000225452.2, VCV000236548.1

No genotype data were submitted for this variant

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