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dbVar

Database of genomic structural variation

nsv4436181

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:92,728,161

Description:GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011

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: 231486 SVs from 147 studies. See in: genome view

Remapped(Score: Good):10,273,372-103,001,532

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4436181	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	10,273,372	10,273,372	103,001,532	103,001,532
nsv4436181	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	10,333,430	103,343,285	103,455,144	103,467,088

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15755800	copy number gain	Multiple	Multiple	Global developmental delay; Global developmental delay; Intellectual disability, mild; Intellectual disability, mild	Uncertain significance	ClinVar	RCV000787285.2, VCV000635767.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15755800	Remapped	Good	NC_000001.11:g.(10 273372_10273372)_( 103001532_10300153 2)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,273,372	10,273,372	103,001,532	103,001,532
nssv15755800	Submitted genomic		NC_000001.10:g.(10 333430_103343285)_ (103455144_1034670 88)dup	GRCh37 (hg19)		NC_000001.10	Chr1	10,333,430	103,343,285	103,455,144	103,467,088

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
nssv15755800	GRCh37: NC_000001.10:g.(10333430_103343285)_(103455144_103467088)dup	copy number gain	unknown	Global developmental delay; Global developmental delay; Intellectual disability, mild; Intellectual disability, mild	Uncertain significance	ClinVar	RCV000787285.2, VCV000635767.2	3

No genotype data were submitted for this variant

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