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dbVar

Database of genomic structural variation

nsv5980444

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:50,828

Description:GRCh37/hg19 2p15(chr2:63521229-63572056)x1 AND Heart defect - tongue hamartoma - polysyndactyly 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: 239 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):63,294,094-63,344,921

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv5980444	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	63,294,094	63,344,921
nsv5980444	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	63,521,229	63,572,056

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17517451	copy number loss	Multiple	Multiple	CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP; Heart defect-tongue hamartoma-polysyndactyly syndrome; congenital heart defects, hamartomas of tongue, and polysyndactyly	Pathogenic	ClinVar	RCV001526491.1, VCV001172573.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17517451	Remapped	Perfect	NC_000002.12:g.(63 294094_?)_(?_63344 921)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	63,294,094	63,344,921
nssv17517451	Submitted genomic		NC_000002.11:g.(63 521229_?)_(?_63572 056)del	GRCh37 (hg19)		NC_000002.11	Chr2	63,521,229	63,572,056

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	Copy number
nssv17517451	GRCh37: NC_000002.11:g.(63521229_?)_(?_63572056)del	copy number loss	unknown	CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP; Heart defect-tongue hamartoma-polysyndactyly syndrome; congenital heart defects, hamartomas of tongue, and polysyndactyly	Pathogenic	ClinVar	RCV001526491.1, VCV001172573.1	1

No genotype data were submitted for this variant

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