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nsv4670849

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:54

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 344 SVs from 62 studies. See in: genome view    
Remapped(Score: Perfect):54,220,709-54,220,762Question Mark
Overlapping variant regions from other studies: 264 SVs from 51 studies. See in: genome view    
Remapped(Score: Perfect):195,693-195,746Question Mark
Overlapping variant regions from other studies: 258 SVs from 51 studies. See in: genome view    
Remapped(Score: Perfect):195,697-195,750Question Mark
Overlapping variant regions from other studies: 262 SVs from 51 studies. See in: genome view    
Remapped(Score: Perfect):195,509-195,562Question Mark
Overlapping variant regions from other studies: 302 SVs from 53 studies. See in: genome view    
Submitted genomic54,724,579-54,724,632Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4670849RemappedPerfectGRCh38.p12Primary AssemblySecond PassNC_000019.10Chr1954,220,70954,220,762
nsv4670849RemappedPerfectGRCh38.p12ALT_REF_LOCI_9First PassNT_187693.1Chr19|NT_1
87693.1		195,693195,746
nsv4670849RemappedPerfectGRCh38.p12ALT_REF_LOCI_7Second PassNW_003571060.1Chr19|NW_0
03571060.1		195,697195,750
nsv4670849RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNW_003571054.1Chr19|NW_0
03571054.1		195,509195,562
nsv4670849Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000019.9Chr1954,724,57954,724,632

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv16191041duplicationCuratedCurated
nssv16205089deletionCuratedCurated

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16191041RemappedPerfectNT_187693.1:g.(?_1
95693)_(195746_?)d
up		GRCh38.p12First PassNT_187693.1Chr19|NT_1
87693.1		195,693195,746
nssv16205089RemappedPerfectNT_187693.1:g.(?_1
95693)_(195746_?)d
el		GRCh38.p12First PassNT_187693.1Chr19|NT_1
87693.1		195,693195,746
nssv16191041RemappedPerfectNW_003571060.1:g.(
?_195697)_(195750_
?)dup		GRCh38.p12Second PassNW_003571060.1Chr19|NW_0
03571060.1		195,697195,750
nssv16205089RemappedPerfectNW_003571060.1:g.(
?_195697)_(195750_
?)del		GRCh38.p12Second PassNW_003571060.1Chr19|NW_0
03571060.1		195,697195,750
nssv16191041RemappedPerfectNW_003571054.1:g.(
?_195509)_(195562_
?)dup		GRCh38.p12Second PassNW_003571054.1Chr19|NW_0
03571054.1		195,509195,562
nssv16205089RemappedPerfectNW_003571054.1:g.(
?_195509)_(195562_
?)del		GRCh38.p12Second PassNW_003571054.1Chr19|NW_0
03571054.1		195,509195,562
nssv16191041RemappedPerfectNC_000019.10:g.(?_
54220709)_(5422076
2_?)dup		GRCh38.p12Second PassNC_000019.10Chr1954,220,70954,220,762
nssv16205089RemappedPerfectNC_000019.10:g.(?_
54220709)_(5422076
2_?)del		GRCh38.p12Second PassNC_000019.10Chr1954,220,70954,220,762
nssv16191041Submitted genomicNC_000019.9:g.(?_5
4724579)_(54724632
_?)dup		GRCh37 (hg19)NC_000019.9Chr1954,724,57954,724,632
nssv16205089Submitted genomicNC_000019.9:g.(?_5
4724579)_(54724632
_?)del		GRCh37 (hg19)NC_000019.9Chr1954,724,57954,724,632

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call IDAllele Frequency (AF)Allele Count (AC)Allele Number (AN)
nssv161910410.01714845
nssv162050890.08572845
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