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dbVar

Database of genomic structural variation

nsv5381582

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:3,586,517

Description:NC_000002.11:g.(?_47672677)_(51259192_?)dup AND Pitt-Hopkins-like syndrome 2

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: 9976 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):47,445,538-51,032,054

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381582	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,445,538	51,032,054
nsv5381582	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	47,672,677	51,259,192

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867260	duplication	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV001345333.2, VCV001041513.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867260	Remapped	Perfect	NC_000002.12:g.(?_ 47445538)_(5103205 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,445,538	51,032,054
nssv16867260	Submitted genomic		NC_000002.11:g.(?_ 47672677)_(5125919 2_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	47,672,677	51,259,192

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
nssv16867260	GRCh37: NC_000002.11:g.(?_47672677)_(51259192_?)dup	duplication	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV001345333.2, VCV001041513.2

No genotype data were submitted for this variant

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