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nsv3895293

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:20,651,423
  • Description:GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 49376 SVs from 133 studies. See in: genome view    
Submitted genomic177,874,070-198,525,492Question Mark
Overlapping variant regions from other studies: 49377 SVs from 133 studies. See in: genome view    
Submitted genomic178,738,797-199,390,216Question Mark
Overlapping variant regions from other studies: 13246 SVs from 38 studies. See in: genome view    
Submitted genomic178,447,043-199,098,461Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3895293Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr2177,874,070198,525,492
nsv3895293Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2178,738,797199,390,216
nsv3895293Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000002.10Chr2178,447,043199,098,461

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15133598copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000052559.4, VCV000058771.11

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15133598Submitted genomicNC_000002.12:g.(?_
177874070)_(198525
492_?)del
GRCh38 (hg38)NC_000002.12Chr2177,874,070198,525,492
nssv15133598Submitted genomicNC_000002.11:g.(?_
178738797)_(199390
216_?)del
GRCh37 (hg19)NC_000002.11Chr2178,738,797199,390,216
nssv15133598Submitted genomicNC_000002.10:g.(?_
178447043)_(199098
461_?)del
NCBI36 (hg18)NC_000002.10Chr2178,447,043199,098,461

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15133598GRCh37: NC_000002.11:g.(?_178738797)_(199390216_?)del, GRCh38: NC_000002.12:g.(?_177874070)_(198525492_?)del, NCBI36: NC_000002.10:g.(?_178447043)_(199098461_?)delcopy number lossde novoSee casesPathogenicClinVarRCV000052559.4, VCV000058771.11

No genotype data were submitted for this variant

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