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dbVar

Database of genomic structural variation

nsv3917277

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:13,839,247

Description:GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985) 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: 42289 SVs from 130 studies. See in: genome view

Submitted genomic13,974,874-27,814,120

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
nsv3917277	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	13,974,874	14,000,146	27,785,985	27,814,120
nsv3917277	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	15,347,195	15,347,195	29,186,439	29,186,439

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15139555	copy number loss	Multiple	Multiple	Chromosome 21 monosomy	Pathogenic	ClinVar	RCV000225561.2, VCV000236549.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15139555	Submitted genomic		NC_000021.9:g.(139 74874_14000146)_(2 7785985_27814120)d el	GRCh38 (hg38)		NC_000021.9	Chr21	13,974,874	14,000,146	27,785,985	27,814,120
nssv15139555	Remapped	Perfect	NC_000021.8:g.(153 47195_15347195)_(2 9186439_29186439)d el	GRCh37.p13	First Pass	NC_000021.8	Chr21	15,347,195	15,347,195	29,186,439	29,186,439

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
nssv15139555	GRCh38: NC_000021.9:g.(13974874_14000146)_(27785985_27814120)del	copy number loss	de novo	Chromosome 21 monosomy	Pathogenic	ClinVar	RCV000225561.2, VCV000236549.1

No genotype data were submitted for this variant

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