U.S. flag

An official website of the United States government

nsv471619

  • Variant Calls:3
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:153,896

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 2738 SVs from 107 studies. See in: genome view    
Remapped(Score: Perfect):241,975,914-242,129,809Question Mark
Overlapping variant regions from other studies: 1262 SVs from 79 studies. See in: genome view    
Remapped(Score: Good):14,609-161,578Question Mark
Overlapping variant regions from other studies: 1261 SVs from 79 studies. See in: genome view    
Remapped(Score: Good):14,609-161,218Question Mark
Overlapping variant regions from other studies: 2675 SVs from 107 studies. See in: genome view    
Remapped(Score: Pass):242,918,065-243,059,659Question Mark
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view    
Submitted genomic243,234,567-243,388,462Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv471619RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2241,975,914242,129,809
nsv471619RemappedGoodGRCh38.p12ALT_REF_LOCI_1Second PassNT_187523.1Chr2|NT_18
7523.1		14,609161,578
nsv471619RemappedGoodGRCh38.p12ALT_REF_LOCI_2Second PassNT_187647.1Chr2|NT_18
7647.1		14,609161,218
nsv471619RemappedPassGRCh37.p13Primary AssemblyFirst PassNC_000002.11Chr2242,918,065243,059,659
nsv471619Submitted genomicNCBI34 (hg16)Primary AssemblyGPC_000000200.1Chr2243,234,567243,388,462

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
nssv550530copy number lossGM10495BBAC aCGHProbe signal intensity45
nssv550531copy number lossGM15726BAC aCGHProbe signal intensity41
nssv550532copy number lossGM15730BAC aCGHProbe signal intensity49

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv550530RemappedGoodNT_187647.1:g.(?_1
4609)_(161218_?)de
l		GRCh38.p12Second PassNT_187647.1Chr2|NT_18
7647.1		14,609161,218
nssv550531RemappedGoodNT_187647.1:g.(?_1
4609)_(161218_?)de
l		GRCh38.p12Second PassNT_187647.1Chr2|NT_18
7647.1		14,609161,218
nssv550532RemappedGoodNT_187647.1:g.(?_1
4609)_(161218_?)de
l		GRCh38.p12Second PassNT_187647.1Chr2|NT_18
7647.1		14,609161,218
nssv550530RemappedGoodNT_187523.1:g.(?_1
4609)_(161578_?)de
l		GRCh38.p12Second PassNT_187523.1Chr2|NT_18
7523.1		14,609161,578
nssv550531RemappedGoodNT_187523.1:g.(?_1
4609)_(161578_?)de
l		GRCh38.p12Second PassNT_187523.1Chr2|NT_18
7523.1		14,609161,578
nssv550532RemappedGoodNT_187523.1:g.(?_1
4609)_(161578_?)de
l		GRCh38.p12Second PassNT_187523.1Chr2|NT_18
7523.1		14,609161,578
nssv550530RemappedPerfectNC_000002.12:g.(?_
241975914)_(242129
809_?)del		GRCh38.p12First PassNC_000002.12Chr2241,975,914242,129,809
nssv550531RemappedPerfectNC_000002.12:g.(?_
241975914)_(242129
809_?)del		GRCh38.p12First PassNC_000002.12Chr2241,975,914242,129,809
nssv550532RemappedPerfectNC_000002.12:g.(?_
241975914)_(242129
809_?)del		GRCh38.p12First PassNC_000002.12Chr2241,975,914242,129,809
nssv550530RemappedPassNC_000002.11:g.(?_
242918065)_(243059
659_?)del		GRCh37.p13First PassNC_000002.11Chr2242,918,065243,059,659
nssv550531RemappedPassNC_000002.11:g.(?_
242918065)_(243059
659_?)del		GRCh37.p13First PassNC_000002.11Chr2242,918,065243,059,659
nssv550532RemappedPassNC_000002.11:g.(?_
242918065)_(243059
659_?)del		GRCh37.p13First PassNC_000002.11Chr2242,918,065243,059,659
nssv550530Submitted genomicGPC_000000200.1:g.
(?_243234567)_(243
388462_?)del		NCBI34 (hg16)GPC_000000200.1Chr2243,234,567243,388,462
nssv550531Submitted genomicGPC_000000200.1:g.
(?_243234567)_(243
388462_?)del		NCBI34 (hg16)GPC_000000200.1Chr2243,234,567243,388,462
nssv550532Submitted genomicGPC_000000200.1:g.
(?_243234567)_(243
388462_?)del		NCBI34 (hg16)GPC_000000200.1Chr2243,234,567243,388,462

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI
Support Center