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dbVar

Database of genomic structural variation

nsv4347266

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:282

Description:GRCh37/hg19 2p21(chr2:46844284-46844565) AND Short stature with microcephaly and distinctive facies

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: 110 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):46,617,145-46,617,426

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4347266	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	46,617,145	46,617,426
nsv4347266	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	46,844,284	46,844,565

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605768	copy number loss	Multiple	Multiple	SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES; SSMCF; Short stature with microcephaly and distinctive facies	Pathogenic	ClinVar	RCV000767551.1, VCV000625543.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605768	Remapped	Perfect	NC_000002.12:g.(?_ 46617145)_(4661742 6_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	46,617,145	46,617,426
nssv15605768	Submitted genomic		NC_000002.11:g.(?_ 46844284)_(4684456 5_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	46,844,284	46,844,565

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
nssv15605768	GRCh37: NC_000002.11:g.(?_46844284)_(46844565_?)del	copy number loss	paternal	SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES; SSMCF; Short stature with microcephaly and distinctive facies	Pathogenic	ClinVar	RCV000767551.1, VCV000625543.1

No genotype data were submitted for this variant

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