A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997523



Internal ID19157059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103621153..103718572hg38UCSC Ensembl
Innerchr1:104163775..104261194hg19UCSC Ensembl
Innerchr1:103965298..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3897420
hg1997420
hg1897420
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3485576, nssv3485589, nssv3488533, nssv3496352, nssv3487210, nssv3501137, nssv3484890, nssv3497811, nssv3493136, nssv3700753, nssv3489336, nssv3488154, nssv3488524, nssv3502703, nssv3490587, nssv3494157, nssv3485029, nssv3486857, nssv3484033, nssv3700754, nssv3491165, nssv3700752
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997523
Frequency
Sample Size11257
Observed Gain7
Observed Loss15
Observed Complex0
Frequencyn/a


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