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nsv3918692

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:50,574,674
  • Description:GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 137171 SVs from 143 studies. See in: genome view    
Submitted genomic147,521,892-198,096,565Question Mark
Overlapping variant regions from other studies: 137173 SVs from 143 studies. See in: genome view    
Submitted genomic147,239,679-197,823,436Question Mark
Overlapping variant regions from other studies: 36032 SVs from 40 studies. See in: genome view    
Submitted genomic148,722,369-199,307,833Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3918692Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000003.12Chr3147,521,892198,096,565
nsv3918692Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000003.11Chr3147,239,679197,823,436
nsv3918692Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000003.10Chr3148,722,369199,307,833

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146977copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000051725.6, VCV000057983.13

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15146977Submitted genomicNC_000003.12:g.(?_
147521892)_(198096
565_?)dup
GRCh38 (hg38)NC_000003.12Chr3147,521,892198,096,565
nssv15146977Submitted genomicNC_000003.11:g.(?_
147239679)_(197823
436_?)dup
GRCh37 (hg19)NC_000003.11Chr3147,239,679197,823,436
nssv15146977Submitted genomicNC_000003.10:g.(?_
148722369)_(199307
833_?)dup
NCBI36 (hg18)NC_000003.10Chr3148,722,369199,307,833

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15146977GRCh37: NC_000003.11:g.(?_147239679)_(197823436_?)dup, GRCh38: NC_000003.12:g.(?_147521892)_(198096565_?)dup, NCBI36: NC_000003.10:g.(?_148722369)_(199307833_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000051725.6, VCV000057983.13

No genotype data were submitted for this variant

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