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dbVar

Database of genomic structural variation

nsv3899237

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:576,183

Description:GRCh37/hg19 19q13.42(chr19:55017416-55602115)x3 AND not provided

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: 1656 SVs from 80 studies. See in: genome view

Remapped(Score: Pass):54,506,200-54,911,985

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3899237	Remapped	Pass	GRCh38.p12	Primary Assembly	Second Pass	NC_000019.10	Chr19	54,506,200	54,911,985
nsv3899237	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	488,530	894,467
nsv3899237	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	363,080	796,479
nsv3899237	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	410,918	987,100
nsv3899237	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_6	Second Pass	NW_003571059.2	Chr19\|NW_0 03571059.2	705,634	1,002,683
nsv3899237	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	399,097	729,520
nsv3899237	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	412,407	987,716
nsv3899237	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_016107303.1	Chr19\|NW_0 16107303.1	1	293,522
nsv3899237	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	55,017,416	55,602,115

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15174352	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000752784.2, VCV000616148.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15174352	Remapped	Pass	NT_187693.1:g.(?_4 88530)_(894467_?)d up	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	488,530	894,467
nssv15174352	Remapped	Pass	NW_003571061.2:g.( ?_363080)_(796479_ ?)dup	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	363,080	796,479
nssv15174352	Remapped	Good	NW_003571060.1:g.( ?_410918)_(987100_ ?)dup	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	410,918	987,100
nssv15174352	Remapped	Pass	NW_003571059.2:g.( ?_705634)_(1002683 _?)dup	GRCh38.p12	Second Pass	NW_003571059.2	Chr19\|NW_0 03571059.2	705,634	1,002,683
nssv15174352	Remapped	Pass	NW_003571055.2:g.( ?_399097)_(729520_ ?)dup	GRCh38.p12	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	399,097	729,520
nssv15174352	Remapped	Pass	NW_016107303.1:g.( ?_1)_(293522_?)dup	GRCh38.p12	Second Pass	NW_016107303.1	Chr19\|NW_0 16107303.1	1	293,522
nssv15174352	Remapped	Good	NW_003571054.1:g.( ?_412407)_(987716_ ?)dup	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	412,407	987,716
nssv15174352	Remapped	Pass	NC_000019.10:g.(?_ 54506200)_(5491198 5_?)dup	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,506,200	54,911,985
nssv15174352	Submitted genomic		NC_000019.9:g.(?_5 5017416)_(55602115 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	55,017,416	55,602,115

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
nssv15174352	GRCh37: NC_000019.9:g.(?_55017416)_(55602115_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000752784.2, VCV000616148.2	3

No genotype data were submitted for this variant

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