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dbVar

Database of genomic structural variation

nsv7096174

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:859

Description:NC_000002.11:g.(?_51148987)_(51149845_?)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: 225 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):50,921,849-50,922,707

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096174	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,921,849	50,922,707
nsv7096174	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	51,148,987	51,149,845

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791604	deletion	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV003105502.2, VCV002423808.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791604	Remapped	Perfect	NC_000002.12:g.(?_ 50921849)_(5092270 7_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,921,849	50,922,707
nssv18791604	Submitted genomic		NC_000002.11:g.(?_ 51148987)_(5114984 5_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	51,148,987	51,149,845

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
nssv18791604	GRCh37: NC_000002.11:g.(?_51148987)_(51149845_?)del	deletion	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV003105502.2, VCV002423808.2

No genotype data were submitted for this variant

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