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dbVar

Database of genomic structural variation

nsv4347470

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:1,118

Description:GRCh37/hg19 3q28(chr3:190039387-190040504) AND Neonatal ichthyosis-sclerosing cholangitis 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: 73 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):190,321,598-190,322,715

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4347470	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	190,321,598	190,322,715
nsv4347470	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	190,039,387	190,040,504

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15605992	copy number loss	Multiple	Multiple	ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC; Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; Neonatal ichthyosis-sclerosing cholangitis syndrome	Pathogenic	ClinVar	RCV000767830.1, VCV000625822.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15605992	Remapped	Perfect	NC_000003.12:g.(?_ 190321598)_(190322 715_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	190,321,598	190,322,715
nssv15605992	Submitted genomic		NC_000003.11:g.(?_ 190039387)_(190040 504_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	190,039,387	190,040,504

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
nssv15605992	GRCh37: NC_000003.11:g.(?_190039387)_(190040504_?)del	copy number loss	germline	ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC; Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; Neonatal ichthyosis-sclerosing cholangitis syndrome	Pathogenic	ClinVar	RCV000767830.1, VCV000625822.1

No genotype data were submitted for this variant

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