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dbVar

Database of genomic structural variation

nsv7098691

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:128

Description:GRCh38/hg38 7q35(chr7:147977862-147977989)x1 AND Cortical dysplasia-focal epilepsy 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: 99 SVs from 20 studies. See in: genome view

Submitted genomic147,977,862-147,977,989

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv7098691	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	147,977,862	147,977,989
nsv7098691	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	147,674,954	147,675,081

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18788168	copy number loss	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 1	Uncertain significance	ClinVar	RCV003123575.3, VCV002429341.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18788168	Submitted genomic		NC_000007.14:g.(14 7977862_?)_(?_1479 77989)del	GRCh38 (hg38)		NC_000007.14	Chr7	147,977,862	147,977,989
nssv18788168	Remapped	Perfect	NC_000007.13:g.(14 7674954_?)_(?_1476 75081)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	147,674,954	147,675,081

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
nssv18788168	GRCh38: NC_000007.14:g.(147977862_?)_(?_147977989)del	copy number loss	biparental	PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 1	Uncertain significance	ClinVar	RCV003123575.3, VCV002429341.4	1

No genotype data were submitted for this variant

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