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dbVar

Database of genomic structural variation

nsv7096667

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:1,268

Description:NC_000002.11:g.(?_50847140)_(50848407_?)del 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: 143 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):50,620,002-50,621,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096667	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,620,002	50,621,269
nsv7096667	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	50,847,140	50,848,407

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791607	deletion	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV003105505.1, VCV002423811.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791607	Remapped	Perfect	NC_000002.12:g.(?_ 50620002)_(5062126 9_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,620,002	50,621,269
nssv18791607	Submitted genomic		NC_000002.11:g.(?_ 50847140)_(5084840 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	50,847,140	50,848,407

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
nssv18791607	GRCh37: NC_000002.11:g.(?_50847140)_(50848407_?)del	deletion	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV003105505.1, VCV002423811.2

No genotype data were submitted for this variant

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