A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055641



Internal ID18798172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46645464hg38UCSC Ensembl
Innerchr17:44394400..44722830hg19UCSC Ensembl
Innerchr17:41750175..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38328431
hg19328431
hg18327972
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3566024, nssv3566006, nssv3566009, nssv3566025, nssv3565998, nssv3566027, nssv3566016, nssv3566002, nssv3725591, nssv3566022, nssv3566019, nssv3566001, nssv3566012, nssv3566005, nssv3566026, nssv3566017, nssv3566018, nssv3725589, nssv3566028, nssv3566000, nssv3566020, nssv3566014, nssv3566011, nssv3725590, nssv3566008, nssv3565996, nssv3566007, nssv3565997, nssv3566003, nssv3566013, nssv3566004, nssv3566010, nssv3725588, nssv3566023, nssv3565999, nssv3566021, nssv3725592, nssv3566015, nssv3725593
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055641
Frequency
Sample Size29084
Observed Gain12
Observed Loss27
Observed Complex0
Frequencyn/a


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