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dbVar

Database of genomic structural variation

nsv7096175

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:792

Description:NC_000002.11:g.(?_51254620)_(51255411_?)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: 219 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):51,027,482-51,028,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096175	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	51,027,482	51,028,273
nsv7096175	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	51,254,620	51,255,411

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791600	deletion	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Pathogenic	ClinVar	RCV003105498.2, VCV002423804.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791600	Remapped	Perfect	NC_000002.12:g.(?_ 51027482)_(5102827 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	51,027,482	51,028,273
nssv18791600	Submitted genomic		NC_000002.11:g.(?_ 51254620)_(5125541 1_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	51,254,620	51,255,411

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
nssv18791600	GRCh37: NC_000002.11:g.(?_51254620)_(51255411_?)del	deletion	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Pathogenic	ClinVar	RCV003105498.2, VCV002423804.2

No genotype data were submitted for this variant

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