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dbVar

Database of genomic structural variation

nsv6315349

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:710,023

Description:GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704) AND Chromosome 1q41-q42 deletion syndrome

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: 1619 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):224,244,980-224,955,002

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315349	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	224,244,980	224,955,002
nsv6315349	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	224,432,682	225,142,704

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976897	copy number loss	Multiple	Multiple	CHROMOSOME 1q41-q42 DELETION SYNDROME; Chromosome 1q41-q42 deletion syndrome; Holoprosencephaly	Pathogenic	ClinVar	RCV002280724.1, VCV001703636.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976897	Remapped	Perfect	NC_000001.11:g.(?_ 224244980)_(224955 002_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	224,244,980	224,955,002
nssv17976897	Submitted genomic		NC_000001.10:g.(?_ 224432682)_(225142 704_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	224,432,682	225,142,704

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
nssv17976897	GRCh37: NC_000001.10:g.(?_224432682)_(225142704_?)del	copy number loss	unknown	CHROMOSOME 1q41-q42 DELETION SYNDROME; Chromosome 1q41-q42 deletion syndrome; Holoprosencephaly	Pathogenic	ClinVar	RCV002280724.1, VCV001703636.1

No genotype data were submitted for this variant

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